Genomes and Genes
Experts and Doctors on female in Nijmegen, Gelderland, Netherlands
Locale: Nijmegen, Gelderland, Netherlands
Publications150 found, 100 shown here
- Nies M, Dekker B, Sulkers E, Huizinga G, Klein Hesselink M, Maurice Stam H, et al. Psychosocial development in survivors of childhood differentiated thyroid carcinoma: a cross-sectional study. Eur J Endocrinol. 2018;178:215-223 pubmed publisher..Social development was slightly more favorable in DTC survivors than in other CCS, but was similar on autonomy and psychosexual domains. ..
- van Nierop J, van Trier D, van der Burgt I, Draaisma J, Mylanus E, Snik A, et al. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. Int J Pediatr Otorhinolaryngol. 2017;97:228-234 pubmed publisher..Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age. ..
- Abrahams H, Gielissen M, Donders R, Goedendorp M, van der Wouw A, Verhagen C, et al. The efficacy of Internet-based cognitive behavioral therapy for severely fatigued survivors of breast cancer compared with care as usual: A randomized controlled trial. Cancer. 2017;123:3825-3834 pubmed publisher..Cancer 2017;123:3825-34. © 2017 American Cancer Society. ..
- Hoa L, Tuan N, My P, Huong T, Chi N, Hau Thu T, et al. Assessing evidence for avian-to-human transmission of influenza A/H9N2 virus in rural farming communities in northern Vietnam. J Gen Virol. 2017;98:2011-2016 pubmed publisher..5 %) seropositive for A/H5 and 123/1105 (11.1 %) seropositive for A/H9]. ..
- Maas R, Iwanicka Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al Owain M, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017;82:1004-1015 pubmed publisher..MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015. ..
- Wang J, Xu Monette Z, Jabbar K, Shen Q, Manyam G, Tzankov A, et al. AKT Hyperactivation and the Potential of AKT-Targeted Therapy in Diffuse Large B-Cell Lymphoma. Am J Pathol. 2017;187:1700-1716 pubmed publisher..This study demonstrates the clinical and therapeutic implications of AKT hyperactivation in DLBCL and suggests that AKT inhibitors need to be combined with other targeted agents for DLBCL to achieve optimal clinical efficacy. ..
- Leijendekkers R, Hinte G, Sman A, Staal J, Nijhuis van der Sanden M, Hoogeboom T. Clinimetric properties of hip abduction strength measurements obtained using a handheld dynamometer in individuals with a lower extremity amputation. PLoS ONE. 2017;12:e0179887 pubmed publisher..HHD-technique 2 is a test-retest reproducible and valid measuring technique The technique may be further optimised by the use of an external device to stabilise the HHD. ..
- van Dijk A, Donkervoort S, Laméris W, de Vries E, Eijsbouts Q, Vrouenraets B, et al. Short- and Long-Term Outcomes after a Reconstituting and Fenestrating Subtotal Cholecystectomy. J Am Coll Surg. 2017;225:371-379 pubmed publisher..The choice for reconstituting or fenestrating STC depends on intraoperative conditions and both techniques are associated with specific complications. ..
- Khetarpal S, Zeng X, Millar J, Vitali C, Somasundara A, Zanoni P, et al. A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels. Nat Med. 2017;23:1086-1094 pubmed publisher..This protective mechanism has the potential to be exploited as a new therapeutic approach to reduce apoC-III levels and circulating TRL burden. ..
- Stone W, Sawa P, Lanke K, Rijpma S, Oriango R, Nyaurah M, et al. A Molecular Assay to Quantify Male and Female Plasmodium falciparum Gametocytes: Results From 2 Randomized Controlled Trials Using Primaquine for Gametocyte Clearance. J Infect Dis. 2017;216:457-467 pubmed publisher..The early sterilizing effects of PQ may not be explained by the preferential clearance of male gametocytes and may be due to an effect on gametocyte fitness. ..
- Coebergh van den Braak R, Sieuwerts A, Kandimalla R, Lalmahomed Z, Bril S, van Galen A, et al. High mRNA expression of splice variant SYK short correlates with hepatic disease progression in chemonaive lymph node negative colon cancer patients. PLoS ONE. 2017;12:e0185607 pubmed publisher..This association could however not be confirmed in two independent smaller cohorts, suggesting that further extensive validation is needed to confirm the prognostic value of SYK(S) expression in chemonaive LNN colon cancer. ..
- Savaris R, Fuhrich D, Duarte R, Franik S, Ross J. Antibiotic therapy for pelvic inflammatory disease. Cochrane Database Syst Rev. 2017;4:CD010285 pubmed publisher..In this review, we assessed the optimal treatment regimen for PID...
- Eggink F, Mom C, Boll D, Ezendam N, Kruitwagen R, Pijnenborg J, et al. Compliance with adjuvant treatment guidelines in endometrial cancer: room for improvement in high risk patients. Gynecol Oncol. 2017;146:380-385 pubmed publisher..Eagerly awaited results of ongoing randomized clinical trials may provide more definitive guidance regarding adjuvant therapy for high risk endometrial cancer patients. ..
- Matzaraki V, Gresnigt M, Jaeger M, Ricaño Ponce I, Johnson M, Oosting M, et al. An integrative genomics approach identifies novel pathways that influence candidaemia susceptibility. PLoS ONE. 2017;12:e0180824 pubmed publisher..By applying this approach to candidaemia, we identified novel susceptibility genes and pathways for candidaemia, and future studies should assess their potential as therapeutic targets. ..
- Mastboom M, Verspoor F, Verschoor A, Uittenbogaard D, Nemeth B, Mastboom W, et al. Higher incidence rates than previously known in tenosynovial giant cell tumors. Acta Orthop. 2017;88:688-694 pubmed publisher..Recurrence rate in diffuse type is 2.6 times higher, compared with localized extremity. TGCT is still considered a rare disease; however, it is more common than previously understood. ..
- Suttorp C, Desmedt D, Maal T, Breuning K. Facial improvement after mandibular midline distraction and surgically assisted rapid maxillary expansion. Am J Orthod Dentofacial Orthop. 2017;152:523-542 pubmed publisher..Surgical planning in 3 dimensions and the use of a 3-dimensional designed surgical osteotomy guiding wafer should improve the predictability of this treatment approach...
- Haycock P, Burgess S, Nounu A, Zheng J, Okoli G, Bowden J, et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol. 2017;3:636-651 pubmed publisher..28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]). It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases. ..
- ter Huurne N, Lozano Soldevilla D, Onnink M, Kan C, Buitelaar J, Jensen O. Diminished modulation of preparatory sensorimotor mu rhythm predicts attention-deficit/hyperactivity disorder severity. Psychol Med. 2017;47:1947-1956 pubmed publisher..This could explain disruptive motor activity in ADHD. These results provide further evidence that impaired modulation of Î± band oscillations is involved in the pathogenesis of ADHD. ..
- Taghizadeh Armaki M, Hedayati M, Moqarabzadeh V, Ansari S, Mahdavi Omran S, Zarrinfar H, et al. Effect of involved Aspergillus species on galactomannan in bronchoalveolar lavage of patients with invasive aspergillosis. J Med Microbiol. 2017;66:898-904 pubmed publisher..flavus (1.6; P-value=0.031) and the sensitivity of GM lower for A. flavus when compared to A. fumigatus. This finding has implications for diagnosis in hospitals and countries with a high proportion of A. flavus infections. ..
- Nibbeling E, Duarri A, Verschuuren Bemelmans C, Fokkens M, Karjalainen J, Smeets C, et al. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain. 2017;140:2860-2878 pubmed publisher..Our work links spinocerebellar ataxia to alterations in synaptic transmission and transcription regulation, and identifies these as the main shared mechanisms underlying the genetically diverse spinocerebellar ataxia types...
- van Kampen J, van Hooij O, Jansen C, Smit F, van Noort P, Schultz I, et al. miRNA-520f Reverses Epithelial-to-Mesenchymal Transition by Targeting ADAM9 and TGFBR2. Cancer Res. 2017;77:2008-2017 pubmed publisher..Collectively, our results show that miR-520f exerts anti-invasive and antimetastatic effects in vitro and in vivo, warranting further study in clinical settings. Cancer Res; 77(8); 2008-17. Â©2017 AACR. ..
- Schweren L, Groenman A, von Rhein D, Weeda W, Faraone S, Luman M, et al. Stimulant Treatment Trajectories Are Associated With Neural Reward Processing in Attention-Deficit/Hyperactivity Disorder. J Clin Psychiatry. 2017;78:e790-e796 pubmed publisher..No striatal or structural changes were found. ..
- Swider K, Wronka E, Oosterman J, Van Rijn C, Jongsma M. Influence of transient spatial attention on the P3 component and perception of painful and non-painful electric stimuli in crossed and uncrossed hands positions. PLoS ONE. 2017;12:e0182616 pubmed publisher..Our results also suggest that hand position may modulate the strength of the cueing effect, although differences between painful and non-painful stimuli exist. ..
- van Daalen F, Prins J, Opmeer B, Boermeester M, Visser C, Van Hest R, et al. Effect of an antibiotic checklist on length of hospital stay and appropriate antibiotic use in adult patients treated with intravenous antibiotics: a stepped wedge cluster randomized trial. Clin Microbiol Infect. 2017;23:485.e1-485.e8 pubmed publisher..Low overall checklist completion rates and discordance between checklist-answers and actual provided care might have attenuated the impact of the checklist. ..
- Fleuren E, Vlenterie M, van der Graaf W, Hillebrandt Roeffen M, Blackburn J, Ma X, et al. Phosphoproteomic Profiling Reveals ALK and MET as Novel Actionable Targets across Synovial Sarcoma Subtypes. Cancer Res. 2017;77:4279-4292 pubmed publisher..Consequently, our integrated approach has led to the identification of ALK and MET as promising therapeutic targets in SS. Cancer Res; 77(16); 4279-92. Â©2017 AACR. ..
- Schmitz M, Hannink G, Gardeniers J, Verdonschot N, Slooff T, Schreurs B. Acetabular Reconstructions with Impaction Bone-Grafting and a Cemented Cup in Patients Younger Than 50 Years of Age: A Concise Follow-up, at 27 to 35 Years, of a Previous Report. J Bone Joint Surg Am. 2017;99:1640-1646 pubmed publisher..Cemented impaction bone-grafting is a reasonable long-term solution for demanding primary and revision acetabular reconstructions in young patients with acetabular bone defects...
- van Gruting I, Stankiewicz A, Kluivers K, De Bin R, Blake H, Sultan A, et al. Accuracy of Four Imaging Techniques for Diagnosis of Posterior Pelvic Floor Disorders. Obstet Gynecol. 2017;130:1017-1024 pubmed publisher..Because transperineal and endovaginal ultrasonography have good test accuracy and patient acceptability, we suggest these could be used for initial assessment of obstructed defecation syndrome. ClinicalTrials.gov, NCT02239302. ..
- van den Bosch M, Blom A, van de Loo F, Koenders M, Lafeber F, van den Berg W, et al. Brief Report: Induction of Matrix Metalloproteinase Expression by Synovial Wnt Signaling and Association With Disease Progression in Early Symptomatic Osteoarthritis. Arthritis Rheumatol. 2017;69:1978-1983 pubmed publisher..Wnt signaling in the synovium may potently induce progression of OA via increased production of MMPs. ..
- Frielink Loing A, Koning A, Van Lier R. Distinguishing influences of overt and covert attention in anticipatory attentional target tracking. J Vis. 2017;17:3 pubmed publisher..We conclude that covert attention always anticipates motion when keeping track of moving objects, while overt attention is more flexible and its anticipatory nature depends on the tracking task. ..
- Pierrache L, Kimchi A, Ratnapriya R, Roberts L, Astuti G, Obolensky A, et al. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. 2017;124:992-1003 pubmed publisher..We observed both phenotypes in 2 siblings carrying the same compound heterozygous variants, which could be explained by variable disease expression and warrants caution when making assertions about genotype-phenotype correlations. ..
- van Sluisveld N, Bakhshi Raiez F, de Keizer N, Holman R, Wester G, Wollersheim H, et al. Variation in rates of ICU readmissions and post-ICU in-hospital mortality and their association with ICU discharge practices. BMC Health Serv Res. 2017;17:281 pubmed publisher..Further research is necessary to find factors, which may influence these patient outcomes, in order to improve quality of care. ..
- Niehues H, Tsoi L, van der Krieken D, Jansen P, Oortveld M, Rodijk Olthuis D, et al. Psoriasis-Associated Late Cornified Envelope (LCE) Proteins Have Antibacterial Activity. J Invest Dermatol. 2017;137:2380-2388 pubmed publisher..Our findings identify an unknown biological function for LCE3 proteins and suggest a role in epidermal host defense and LCE3B/C-del-mediated psoriasis risk. ..
- Busula A, Bousema T, Mweresa C, Masiga D, Logan J, Sauerwein R, et al. Gametocytemia and Attractiveness of Plasmodium falciparum-Infected Kenyan Children to Anopheles gambiae Mosquitoes. J Infect Dis. 2017;216:291-295 pubmed publisher..falciparum, we show that gametocytes-and not their noninfectious asexual progenitors-induce increased attractiveness of humans to mosquitoes. Our findings therefore support the parasite host manipulation hypothesis. ..
- van Aken M, Oosterman J, van Rijn C, Ferdek M, Ruigt G, Peeters B, et al. Pain cognition versus pain intensity in patients with endometriosis: toward personalized treatment. Fertil Steril. 2017;108:679-686 pubmed publisher..In international guidelines on management of women with endometriosis more attention should be paid to the psychological aspects of care. ..
- van den Bosch S, Dijkema T, Kunze Busch M, Terhaard C, Raaijmakers C, Doornaert P, et al. Uniform FDG-PET guided GRAdient Dose prEscription to reduce late Radiation Toxicity (UPGRADE-RT): study protocol for a randomized clinical trial with dose reduction to the elective neck in head and neck squamous cell carcinoma. BMC Cancer. 2017;17:208 pubmed publisher..ClinicalTrials.gov Identifier: NCT02442375 . ..
- van Lieshout J, Fischer I, Kamp M, Donders A, Cornelius J, Steiger H, et al. Subarachnoid Hemorrhage in Germany Between 2010 and 2013: Estimated Incidence Rates Based on a Nationwide Hospital Discharge Registry. World Neurosurg. 2017;104:516-521 pubmed publisher..Rejecting the external validity of studies from countries believed to display an exceptional incidence rates may therefore not be justified. ..
- Arts E, Fransen J, den Broeder A, van Riel P, Popa C. Low disease activity (DAS28?3.2) reduces the risk of first cardiovascular event in rheumatoid arthritis: a time-dependent Cox regression analysis in a large cohort study. Ann Rheum Dis. 2017;76:1693-1699 pubmed publisher..Our results strengthen the use of tight control strategies in daily clinical practice to achieve low stable disease activity or remission in patients with RA as soon as possible. ..
- Ravesteijn B, Schachar E, Beekman A, Janssen R, Jeurissen P. Association of Cost Sharing With Mental Health Care Use, Involuntary Commitment, and Acute Care. JAMA Psychiatry. 2017;74:1-9 pubmed publisher..A higher out-of-pocket price for mental health care may lead not only to cost savings but also to negative downstream consequences...
- Holland K, van Gils C, Mann R, Karssemeijer N. Quantification of masking risk in screening mammography with volumetric breast density maps. Breast Cancer Res Treat. 2017;162:541-548 pubmed publisher..022). Differences between BI-RADS and PDV, or BI-RADS and DTMM, are not statistically significant. Measures based on density maps, and in particular PDA, are promising tools to identify women at high risk for a masked cancer. ..
- Norman M, Piedvache A, Børch K, Huusom L, Bonamy A, Howell E, et al. Association of Short Antenatal Corticosteroid Administration-to-Birth Intervals With Survival and Morbidity Among Very Preterm Infants: Results From the EPICE Cohort. JAMA Pediatr. 2017;171:678-686 pubmed publisher..Administration-to-birth intervals of antenatal corticosteroids (ANS) vary. The significance of this variation is unclear. Specifically, to our knowledge, the shortest effective administration-to-birth interval is unknown...
- de Swart L, Smith A, MacKenzie M, Symeonidis A, Neukirchen J, Mikulenkova D, et al. Cytomorphology review of 100 newly diagnosed lower-risk MDS patients in the European LeukemiaNet MDS (EUMDS) registry reveals a high inter-observer concordance. Ann Hematol. 2017;96:1105-1112 pubmed publisher..Our data show that in general, the inter-observer agreement was high and a very low percentage of misdiagnosed cases had been entered into the EUMDS registry. Further studies including histomorphology are warranted. ..
- Richters A, Melis R, van Exel N, Olde Rikkert M, van der Marck M. Perseverance time of informal caregivers for people with dementia: construct validity, responsiveness and predictive validity. Alzheimers Res Ther. 2017;9:26 pubmed publisher..The predictive power of perseverance time scores for living situation exceeds the predictive power of other burden measures and indicates informal care as an important factor for maintaining the patient at home. ..
- Rao D, Peitzsch M, Prejbisz A, Hanus K, Fassnacht M, Beuschlein F, et al. Plasma methoxytyramine: clinical utility with metanephrines for diagnosis of pheochromocytoma and paraganglioma. Eur J Endocrinol. 2017;177:103-113 pubmed publisher..9% vs 49.3%). While the benefit of additional measurements of plasma methoxytyramine for the detection of PPGLs is modest, the measurements do assist with positive confirmation of disease and are useful for the detection of HNPGLs. ..
- Nijsten J, Leontjevas R, Pat El R, Smalbrugge M, Koopmans R, Gerritsen D. Apathy: Risk Factor for Mortality in Nursing Home Patients. J Am Geriatr Soc. 2017;65:2182-2189 pubmed publisher..001). Apathy was associated with mortality over a 4-month period in NH patients, even when controlling for depression. These data suggest that screening and treatment strategies for apathy should be developed for this patient population. ..
- Bonaca M, Storey R, Theroux P, Steg P, Bhatt D, Cohen M, et al. Efficacy and Safety of Ticagrelor OverÂ Time in Patients With Prior MI inÂ PEGASUS-TIMI 54. J Am Coll Cardiol. 2017;70:1368-1375 pubmed publisher..PreventionÂ of Cardiovascular Events in Patients with Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin [PEGASUS]; NCT01225562). ..
- Iacozza S, Costa A, Duñabeitia J. What do your eyes reveal about your foreign language? Reading emotional sentences in a native and foreign language. PLoS ONE. 2017;12:e0186027 pubmed publisher..These results reveal that the sympathetic nervous system reacts differently depending on the language context, which in turns suggests a deeper emotional processing when reading in a native compared to a foreign language...
- Donk R, Fehlings M, Verhagen W, Arnts H, Groenewoud H, Verbeek A, et al. An assessment of the most reliable method to estimate the sagittal alignment of the cervical spine: analysis of a prospective cohort of 138 cases. J Neurosurg Spine. 2017;26:572-576 pubmed publisher..Clinical trial registration no.: ISRCTN41681847 ( https://www.isrctn.com ). ..
- Navarro SchrÃ¶der T, Haak K, Zaragoza Jimenez N, Beckmann C, Doeller C. Functional topography of the human entorhinal cortex. elife. 2015;4: pubmed publisher..Localising the human homologue of the rodent MEC and LEC has important implications for translating studies on the hippocampo-entorhinal memory system from rodents to humans. ..
- Willemsen M, Vissers L, Verbeek M, van Bon B, Geuer S, Gilissen C, et al. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome. Eur J Hum Genet. 2017;25:771-774 pubmed publisher..This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region. ..
- Poort H, Kaal S, Knoop H, Jansen R, Prins J, Manten Horst E, et al. Prevalence and impact of severe fatigue in adolescent and young adult cancer patients in comparison with population-based controls. Support Care Cancer. 2017;25:2911-2918 pubmed publisher..QoL is significantly affected by severe fatigue, stressing the importance of detection and management of this symptom in those patients affected by a life-changing diagnosis of cancer in late adolescence or young adulthood. ..
- Myers K, Mandelstam S, Ramantani G, Rushing E, de Vries B, Koolen D, et al. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia. 2017;58:1085-1094 pubmed publisher..Epilepsy surgery should be undertaken with care given the widespread neuroanatomic abnormalities; however, tumors are a rare, yet important, occurrence. ..
- Bokma J, Winter M, Kornaat E, Vliegen H, van Dijk A, van Melle J, et al. Right vEntricular Dysfunction in tEtralogy of Fallot: INhibition of the rEnin-angiotensin-aldosterone system (REDEFINE) trial: Rationale and design of a randomized, double-blind, placebo-controlled clinical trial. Am Heart J. 2017;186:83-90 pubmed publisher..In addition, laboratory measurements, echocardiography, and cardiopulmonary exercise testing are performed. The REDEFINE trial will study the effects of RAAS inhibition with losartan in TOF patients with RV dysfunction. ..
- de Jong J, Kluijtmans L, van Amerongen M, Prokop M, Boogaarts H, Meijer F. "On the Spot": The Use of Four-Dimensional Computed Tomography Angiography to Differentiate a True Spot Sign From a Distal Intracranial Aneurysm. World Neurosurg. 2017;105:1037.e9-1037.e12 pubmed publisher..This finding proves the additional value of this relatively new technique, because the detected underlying disorders have different therapeutic consequences in the acute setting. ..
- Oosten L, Chamuleau M, Thielen F, de Wreede L, Siemes C, Doorduijn J, et al. Treatment of sporadic Burkitt lymphoma in adults, a retrospective comparison of four treatment regimens. Ann Hematol. 2018;97:255-266 pubmed publisher..These differences may help guide future choice of treatment. ..
- Karssemeijer E, Bossers W, Aaronson J, Kessels R, Olde Rikkert M. The effect of an interactive cycling training on cognitive functioning in older adults with mild dementia: study protocol for a randomized controlled trial. BMC Geriatr. 2017;17:73 pubmed publisher..The results of this study may be used for physical and mental activity recommendations in older adults with dementia. The Netherlands National Trial Register NTR5581 . Registered 14 February 2016. ..
- Grooten I, Koot M, van der Post J, Bais J, Ris Stalpers C, Naaktgeboren C, et al. Early enteral tube feeding in optimizing treatment of hyperemesis gravidarum: the Maternal and Offspring outcomes after Treatment of HyperEmesis by Refeeding (MOTHER) randomized controlled trial. Am J Clin Nutr. 2017;106:812-820 pubmed publisher..Many women discontinued tube feeding because of discomfort, suggesting that it is poorly tolerated as an early routine treatment of HG. This trial was registered at www.trialregister.nl as NTR4197. ..
- Persad P, Heid I, Weeks D, Baird P, de Jong E, Haines J, et al. Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. Invest Ophthalmol Vis Sci. 2017;58:4027-4038 pubmed publisher..0020, OR = 2.17, 95% CI = 1.34-3.60). These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. ..
- Tachmazidou I, Süveges D, Min J, Ritchie G, Steinberg J, Walter K, et al. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet. 2017;100:865-884 pubmed publisher..Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum. ..
- Koemans T, Kleefstra T, Chubak M, Stone M, Reijnders M, de Munnik S, et al. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet. 2017;13:e1006864 pubmed publisher..Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders. ..
- Lessel D, Schob C, KÃ¼ry S, Reijnders M, Harel T, Eldomery M, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017;101:716-724 pubmed publisher..Thus, our findings highlight the prominent role of translation control in development and function of the central nervous system and also provide molecular insight into how DHX30 dysfunction might cause a neurodevelopmental disorder. ..
- Desai R, Frazier A, Durigon R, Patel H, Jones A, Dalla Rosa I, et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017;140:1595-1610 pubmed publisher..The dual problem of perturbed cholesterol metabolism and mitochondrial dysfunction could be widespread in neurological and neurodegenerative diseases. ..
- Krul I, Opstal van Winden A, Aleman B, Janus C, van Eggermond A, De Bruin M, et al. Breast Cancer Risk After Radiation Therapy for Hodgkin Lymphoma: Influence of Gonadal Hormone Exposure. Int J Radiat Oncol Biol Phys. 2017;99:843-853 pubmed publisher..HRT does not appear to increase BC risk for HL survivors with therapy-induced early menopause. There are no indications that endogenous and exogenous gonadal hormones affect the radiation dose-response relationship. ..
- Ju Y, Ooms S, Sutphen C, Macauley S, Zangrilli M, Jerome G, et al. Slow wave sleep disruption increases cerebrospinal fluid amyloid-? levels. Brain. 2017;140:2104-2111 pubmed publisher..These effects are specific to neuronally-derived proteins, which suggests they are likely driven by changes in neuronal activity during disrupted sleep. ..
- van der Heijde D, van T Hof M, van Riel P, Theunisse L, Lubberts E, van Leeuwen M, et al. Judging disease activity in clinical practice in rheumatoid arthritis: first step in the development of a disease activity score. Ann Rheum Dis. 1990;49:916-20 pubmed..The rheumatologists' decisions to prescribe slow acting antirheumatic drugs, or not, were mainly based on articular symptoms. ..
- van den Bos R, Mes W, Galligani P, Heil A, Zethof J, Flik G, et al. Further characterisation of differences between TL and AB zebrafish (Danio rerio): Gene expression, physiology and behaviour at day 5 of the larval stage. PLoS ONE. 2017;12:e0175420 pubmed publisher..These results emphasise that differences between strains need to be taken into account to enhance reproducibility both within, and between, laboratories. ..
- Schepers S, van Oers H, Maurice Stam H, Huisman J, Verhaak C, Grootenhuis M, et al. Health related quality of life in Dutch infants, toddlers, and young children. Health Qual Life Outcomes. 2017;15:81 pubmed publisher..0. However, it remains unclear whether these HRQoL instruments can distinguish between healthy children and children with a chronic health condition under the age of 5. ..
- Fenaux P, Muus P, Kantarjian H, Lyons R, Larson R, Sekeres M, et al. Romiplostim monotherapy in thrombocytopenic patients with myelodysplastic syndromes: long-term safety and efficacy. Br J Haematol. 2017;178:906-913 pubmed publisher..There were no new safety concerns and the rate of progression to AML was low; response to romiplostim was maintained for most patients. ..
- Bartels D, van Laarhoven A, Stroo M, Hijne K, Peerdeman K, Donders A, et al. Minimizing nocebo effects by conditioning with verbal suggestion: A randomized clinical trial in healthy humans. PLoS ONE. 2017;12:e0182959 pubmed publisher..The results of the current study indicate that learning via counterconditioning and verbal suggestion represents a promising strategy for diminishing nocebo responses. ..
- Drost J, van Boxtel R, Blokzijl F, Mizutani T, Sasaki N, Sasselli V, et al. Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer. Science. 2017;358:234-238 pubmed publisher..We show that signature 30 can arise from germline NTHL1 mutations. ..
- van der Wees P, Wammes J, Akkermans R, Koetsenruijter J, Westert G, van Kampen A, et al. Patient-reported health outcomes after total hip and knee surgery in a Dutch University Hospital Setting: results of twenty years clinical registry. BMC Musculoskelet Disord. 2017;18:97 pubmed publisher..Our study shows the feasibility of the routine collection of PRO data in patients with total hip and knee replacement. The use of PRO data provides opportunities for continuous quality improvement. ..
- van den Brand J, Verhave J, Adang E, Wetzels J. Cost-effectiveness of eculizumab treatment after kidney transplantation in patients with atypical haemolytic uraemic syndrome. Nephrol Dial Transplant. 2017;32:i115-i122 pubmed publisher..When compared with eculizumab upon recurrence, neither eculizumab induction nor lifelong eculizumab prophylaxis resulted in more QALYs, but did yield far higher costs. Therefore, eculizumab upon recurrence of aHUS is more acceptable. ..
- Vazirpanah N, Verhagen F, Rothova A, Missotten T, van Velthoven M, den Hollander A, et al. Aberrant leukocyte telomere length in Birdshot Uveitis. PLoS ONE. 2017;12:e0176175 pubmed publisher..These findings suggest that BU is accompanied by significantly longer LTL. ..
- Leijtens B, Elbers J, Sturm P, Kullberg B, Schreurs B. Clindamycin-rifampin combination therapy for staphylococcal periprosthetic joint infections: a retrospective observational study. BMC Infect Dis. 2017;17:321 pubmed publisher..Combined therapy with clindamycin and rifampin is a safe, well tolerated and effective regimen for the treatment of staphylococcal periprosthetic infection. ..
- Merkx R, Duijnhouwer A, Vink E, Roos Hesselink J, Schokking M. Aortic Diameter Growth in Children With a Bicuspid Aortic Valve. Am J Cardiol. 2017;120:131-136 pubmed publisher..In conclusion, only the AA seems at risk for complication, although no aortic complications occurred in this pediatric BAV cohort. BAV morphology seems associated with larger AA z-scores and valvular dysfunction. ..
- van den Brand J, Ruggenenti P, Chianca A, Hofstra J, Perna A, Ruggiero B, et al. Safety of Rituximab Compared with Steroids and Cyclophosphamide for Idiopathic Membranous Nephropathy. J Am Soc Nephrol. 2017;28:2729-2737 pubmed publisher..Because of its superior safety profile, we suggest that Rtx might replace St-Cp as first-line immunosuppressive therapy in patients with idiopathic membranous nephropathy and nephrotic syndrome. ..
- Hilgert L, Leal S, Freire G, Mulder J, Frencken J. 3-year survival rates of retained composite resin and ART sealants using two assessment criteria. Braz Oral Res. 2017;31:e35 pubmed publisher..Cumulative survival rates were statistically significantly lower for the modified criterion in comparison to the traditional. The modified retention assessment criterion should be used in future sealant-retention studies. ..