Genomes and Genes
Experts and Doctors on adolescent in Nijmegen, Gelderland, Netherlands
Locale: Nijmegen, Gelderland, Netherlands
Publications232 found, 100 shown here
- Verhagen L, Zomer A, Maes M, Villalba J, del Nogal B, Eleveld M, et al. A predictive signature gene set for discriminating active from latent tuberculosis in Warao Amerindian children. BMC Genomics. 2013;14:74 pubmed publisher..We show that, as the identification of different biomarkers in ethnically distinct cohorts is apparent, it is important to cross-validate newly identified markers in all available cohorts. ..
- Van Ravesteijn H, Lucassen P, Bor H, van Weel C, Speckens A. Mindfulness-based cognitive therapy for patients with medically unexplained symptoms: a randomized controlled trial. Psychother Psychosom. 2013;82:299-310 pubmed publisher..Although MBCT did not lead to a significant difference in general health status between the two groups, it did result in a significant improvement in mental functioning. ..
- Voogt C, Kuntsche E, Kleinjan M, Poelen E, Lemmers L, Engels R. Using ecological momentary assessment in testing the effectiveness of an alcohol intervention: a two-arm parallel group randomized controlled trial. PLoS ONE. 2013;8:e78436 pubmed publisher..Therefore, future trials in alcohol prevention research and beyond are encouraged to apply EMA when assessing outcome measures and intervention effectiveness. Netherlands Trial Register NTR2665. ..
- Bossers S, Cibis M, Kapusta L, Potters W, Snoeren M, Wentzel J, et al. Long-Term Serial Follow-Up of Pulmonary Artery Size and Wall Shear Stress in Fontan Patients. Pediatr Cardiol. 2016;37:637-45 pubmed publisher..Pulmonary artery size, however, is not significantly different from healthy controls and long-term growth after Fontan operation is proportionate to body size. ..
- Hartung F, Hagoort P, Willems R. Readers select a comprehension mode independent of pronoun: Evidence from fMRI during narrative comprehension. Brain Lang. 2017;170:29-38 pubmed publisher..Our results suggest that comprehension is perspective dependent, but not on the perspective suggested by the text, but on the reader's (situational) preference. ..
- 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. ..
- 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. ..
- Duker P, van Driel S, van de Bercken J. Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. J Intellect Disabil Res. 2002;46:35-40 pubmed..Individuals with DS and PDD did not differ in their scores on echoic functioning. The implications of these findings for the study of behavioural phenotypes and for communication intervention are discussed. ..
- Marinus E, Mostard M, Segers E, Schubert T, Madelaine A, Wheldall K. A Special Font for People with Dyslexia: Does it Work and, if so, why?. Dyslexia. 2016;22:233-44 pubmed publisher..We concluded that the efficacy of Dyslexie font is not because of its specially designed letter shapes, but because of its particular spacing settings. Copyright © 2016 John Wiley & Sons, Ltd. ..
- Fejzic Z, van Oort A. Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome. Cardiol Young. 2005;15:529-31 pubmed..As far as we know, this is the first description of implantation of a stent in the setting of coarctation in Turner's syndrome, albeit with an unfortunate conclusion. ..
- Levtchenko E, van Dael C, de Graaf Hess A, Wilmer M, van den Heuvel L, Monnens L, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006;21:110-3 pubmed..We provide evidence that cysteamine has to be administered every 6 h, including the night, as it has much better effect for maintaining low PMN cystine levels...
- van der Linden I, Heil S, den Heijer M, Blom H. The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk. J Hum Genet. 2007;52:516-20 pubmed..55-13.22 and OR 3.38, 95%CI 1.46-7.84, respectively). In our study population, the NOS3 894GT/TT genotype might be a risk factor for having a spina bifida affected child in mothers who already have an impaired homocysteine metabolism. ..
- Steenbergen B, Charles J, Gordon A. Fingertip force control during bimanual object lifting in hemiplegic cerebral palsy. Exp Brain Res. 2008;186:191-201 pubmed publisher..The implications of these findings for recent rehabilitative therapies in children with CP that make use of bimanual training are discussed. ..
- Scheeres K, Wensing M, Severens H, Adang E, Bleijenberg G. Determinants of health care use in chronic fatigue syndrome patients: a cross-sectional study. J Psychosom Res. 2008;65:39-46 pubmed publisher..To reduce the related costs for patients and society, it will be useful to know which factors determine CFS patients' amount of health care use. Little is known, however, about these factors...
- Achouitar S, Mohamed M, Gardeitchik T, Wortmann S, Sykut Cegielska J, Ensenauer R, et al. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis. 2011;34:923-7 pubmed publisher..The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions. ..
- Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A. Scoliosis surgery in a patient with "de novo" myosin storage myopathy. Neuromuscul Disord. 2011;21:812-5 pubmed publisher..We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery...
- Roelofzen J, Van Der Valk P, Godschalk R, Dettbarn G, Seidel A, Golsteijn L, et al. DNA adducts in skin biopsies and 1-hydroxypyrene in urine of psoriasis patients and healthy volunteers following treatment with coal tar. Toxicol Lett. 2012;213:39-44 pubmed publisher..05). Biomarkers for uptake, bioavailability and bioactivation of PAH were lower in patients compared to volunteers. These data suggest a lower risk of carcinogenic effects of CTO in psoriatic skin compared to healthy skin. ..
- Hoitsma A, Woodle E, Abramowicz D, Proot P, Vanrenterghem Y. FTY720 combined with tacrolimus in de novo renal transplantation: 1-year, multicenter, open-label randomized study. Nephrol Dial Transplant. 2011;26:3802-5 pubmed publisher..FTY720 combined with tacrolimus and steroids did not show a significant therapeutic advantage over MMF for the prevention of acute rejection in de novo renal transplant recipients. ..
- Hendriks A, Voermans N, Schalkwijk J, Hamel B, van Rossum M. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases. Clin Dysmorphol. 2012;21:15-8 pubmed publisher..Because the TNX-deficient type EDS is rare and not included in the current diagnostic criteria, this diagnosis is often delayed or even overlooked. Here, we describe four cases which improve the clinical recognition of this type of EDS. ..
- Van Bon B, Coe B, Bernier R, Green C, Gerdts J, Witherspoon K, et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry. 2016;21:126-32 pubmed publisher..We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models. ..
- Bronckers I, Paller A, van Geel M, van de Kerkhof P, Seyger M. Psoriasis in Children and Adolescents: Diagnosis, Management and Comorbidities. Paediatr Drugs. 2015;17:373-84 pubmed publisher..This article reviews current concepts in pediatric psoriasis including epidemiology, clinical features, diagnosis, the role of topical and systemic agents and the association with other morbidities in childhood. ..
- van der Meer J, Hartman C, Thissen A, Oerlemans A, Luman M, Buitelaar J, et al. How 'core' are motor timing difficulties in ADHD? A latent class comparison of pure and comorbid ADHD classes. Eur Child Adolesc Psychiatry. 2016;25:351-60 pubmed publisher..This cannot merely be explained by high ADHD severity with ASD playing no role, as ADHD symptom severity in the pure ADHD-class and the ASD(+ADHD) class was highly similar, with the former class showing no motor timing deficits. ..
- van Geel M, van de Kerkhof P, Oostveen A, de Jong E, Seyger M. Fumaric acid esters in recalcitrant pediatric psoriasis: A prospective, daily clinical practice case series. J Dermatolog Treat. 2016;27:214-20 pubmed publisher..FAE may be an alternative systemic treatment option for pediatric psoriasis, provided that also the long-term safety data are closely monitored, in particular lymphocytopenia. ..
- Tonduti D, Orcesi S, Jenkinson E, Dorboz I, Renaldo F, Panteghini C, et al. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. Eur J Paediatr Neurol. 2016;20:604-10 pubmed publisher..Our data highlight the need to include both disorders in the same differential diagnosis, and hint at possible shared pathomechanisms related to auto-inflammation which are worthy of further investigation. ..
- 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. ..
- 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. ..
- Meij I, Saar K, van den Heuvel L, Nuernberg G, Vollmer M, Hildebrandt F, et al. Hereditary isolated renal magnesium loss maps to chromosome 11q23. Am J Hum Genet. 1999;64:180-8 pubmed..We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling. ..
- Klasen I, Göertz J, van de Wiel G, Weemaes C, van der Meer J, Drenth J. Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome. Clin Diagn Lab Immunol. 2001;8:58-61 pubmed..These results indicate a continuous, presumably systemic, stimulation of IgA in HIDS patients. ..
- Willemsen M, Lutt M, Steijlen P, Cruysberg J, van der Graaf M, Nijhuis van der Sanden M, et al. Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome. Eur J Pediatr. 2001;160:711-7 pubmed..The findings reported here, point to a crucial role for leukotriene B4 in the pathogenesis of pruritus. ..
- Spermon J, de Geus Oei L, Kiemeney L, Witjes J, Oyen W. The role of (18)fluoro-2-deoxyglucose positron emission tomography in initial staging and re-staging after chemotherapy for testicular germ cell tumours. BJU Int. 2002;89:549-56 pubmed..In re-staging, a negative FDG-PET result predicts fibrotic residual mass in seminomatous GCT. Moreover, it could be useful to predict fibrotic residual mass in NSGCT in those patients with no teratoma component in their primary tumour. ..
- Erasmus C, Beems T, Rotteveel J. Frontal ataxia in childhood. Neuropediatrics. 2004;35:368-70 pubmed..We suppose that frontal ataxia is the result of a disturbance in the cerebellar-frontal circuitries and an impairment of executive and planning functions of the basal ganglia-frontal lobe circuitry...
- de Vries B, Pals G, Odink R, Hamel B. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet. 2007;15:930-5 pubmed..This family is the first molecularly confirmed recessive MFS. The demonstration of recessive cases of MFS has obvious implications for genetic counselling as well as for molecular diagnosis. ..
- van der Geest I, de Valk M, de Rooy J, Pruszczynski M, Veth R, Schreuder H. Oncological and functional results of cryosurgical therapy of enchondromas and chondrosarcomas grade 1. J Surg Oncol. 2008;98:421-6 pubmed publisher..Curettage and cryosurgery for enchondroma and chondrosarcoma grade 1 has excellent oncological and functional results. The post-operative management has been adjusted to reduce the number of fractures. ..
- Schotanus M, van Middendorp J, Hosman A. Isolated transverse process fractures of the subaxial cervical spine: a clinically insignificant injury or not?: a prospective, longitudinal analysis in a consecutive high-energy blunt trauma population. Spine (Phila Pa 1976). 2010;35:E965-70 pubmed publisher..Prospective single cohort study...
- Kleefstra T, Wortmann S, Rodenburg R, Bongers E, Hadzsiev K, Noordam C, et al. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur J Hum Genet. 2011;19:138-44 pubmed publisher..We postulate that patients with Ras-MAPK mutations have an increased susceptibility, but a second metabolic hit is needed to cause the clinical manifestation of mitochondrial dysfunction. ..
- de Ligt J, Willemsen M, van Bon B, Kleefstra T, Yntema H, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921-9 pubmed publisher..De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection. (Funded by the European Union and others.). ..
- Kiewik M, VanDerNagel J, Kemna L, Engels R, Dejong C. Substance use prevention program for adolescents with intellectual disabilities on special education schools: a cluster randomised control trial. J Intellect Disabil Res. 2016;60:191-200 pubmed publisher..is required. Furthermore, prevention needs to be implemented at a younger age, as 6% of the students tried their first cigarette and 15% of the students drank alcohol at the age of 10â€‰years or younger. ..
- Backus A, Schoffelen J, SzebÃ©nyi S, Hanslmayr S, Doeller C. Hippocampal-Prefrontal Theta Oscillations Support Memory Integration. Curr Biol. 2016;26:450-7 pubmed publisher..These findings have important implications for our understanding of memory-based decision making and knowledge acquisition. ..
- Greenbaum L, Fila M, Ardissino G, Al Akash S, Evans J, Henning P, et al. Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome. Kidney Int. 2016;89:701-11 pubmed publisher..Thus, our findings establish the efficacy and safety of eculizumab for pediatric patients with aHUS and are consistent with proposed immediate eculizumab initiation following diagnosis in children. ..
- 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. ..
- Raijmakers M, Roes E, Steegers E, Peters W. The C242T-polymorphism of the NADPH/NADH oxidase gene p22phox subunit is not associated with pre-eclampsia. J Hum Hypertens. 2002;16:423-5 pubmed..Therefore, oxidative stress generated by NADPH/NADH oxidase probably does not play a role in the development of pre-eclampsia. ..
- Bischoff A, Luijendijk M, Huygen P, van Duijnhoven G, De Leenheer E, Oudesluijs G, et al. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol. 2004;9:34-46 pubmed..The second mutation identified in the DFNA5 gene results in hearing impairment, similar to that in the original DFNA5 family in terms of pure-tone thresholds, but with more favourable speech recognition. ..
- van der Vorst H, Engels R, Meeus W, Dekovic M. Parental attachment, parental control, and early development of alcohol use: a longitudinal study. Psychol Addict Behav. 2006;20:107-16 pubmed..Furthermore, with regard to the moderating effect, parental attachment did not moderate longitudinally the association between parental control and an early development of alcohol use. Implications for further research are discussed. ..
- Jacobs J, Grauer O, Brasseur F, Hoogerbrugge P, Wesseling P, Gidding C, et al. Selective cancer-germline gene expression in pediatric brain tumors. J Neurooncol. 2008;88:273-80 pubmed publisher..This observation is in line with the notion that pediatric and adult glioblastomas develop along different genetic pathways. ..
- Hansson B, Bleichrodt R, de Hingh I. Laparoscopic parastomal hernia repair using a keyhole technique results in a high recurrence rate. Surg Endosc. 2009;23:1456-9 pubmed publisher..A new mesh with a less pliable central part and without the tendency to shrink is awaited. ..
- McCall M, Hopman J, Daou M, Maiga B, Dara V, Ploemen I, et al. Early interferon-gamma response against Plasmodium falciparum correlates with interethnic differences in susceptibility to parasitemia between sympatric Fulani and Dogon in Mali. J Infect Dis. 2010;201:142-52 pubmed publisher..falciparum as a correlate of anti-parasite immunity, not only in this setting but also in the wider context of malaria, and support the development of malaria vaccines aimed at inducing such responses. ..
- Voorhoeve P, van Rossum E, te Velde S, Koper J, Kemper H, Lamberts S, et al. Association between an IGF-I gene polymorphism and body fatness: differences between generations. Eur J Endocrinol. 2006;154:379-88 pubmed
- Rahusen F, Brinkman J, Eygendaal D. Results of arthroscopic debridement for osteochondritis dissecans of the elbow. Br J Sports Med. 2006;40:966-9 pubmed..The function of the elbow, as reflected by the MAESS score, improved from poor to excellent. All patients in this series will be reviewed after 5 years to determine long-term results. ..
- Sprong T, Pickkers P, Geurts Moespot A, van der Ven Jongekrijg J, Neeleman C, Knaup M, et al. Macrophage migration inhibitory factor (MIF) in meningococcal septic shock and experimental human endotoxemia. Shock. 2007;27:482-7 pubmed..Macrophage migration inhibitory factor cannot be detected in a human endotoxemia model and is not produced by whole blood cells incubated with LPS or meningococci. ..
- Bodar E, Drenth J, Van der Meer J, Simon A. Dysregulation of innate immunity: hereditary periodic fever syndromes. Br J Haematol. 2009;144:279-302 pubmed publisher..In recent years, treatment options for these diseases have improved significantly. Early establishment of an accurate diagnosis and start of appropriate therapy improves prognosis in these patients. ..
- van Eijk J, van Alfen N, Berrevoets M, Van Der Wilt G, Pillen S, van Engelen B. Evaluation of prednisolone treatment in the acute phase of neuralgic amyotrophy: an observational study. J Neurol Neurosurg Psychiatry. 2009;80:1120-4 pubmed publisher..Given the circumstantial evidence of a beneficial effect of prednisolone on pain and paresis, this report evaluates the effects of prednisolone treatment administered in the acute phase in a retrospective case series of 50 NA patients...
- Horster F, Garbade S, Zwickler T, Aydin H, Bodamer O, Burlina A, et al. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009;32:630 pubmed publisher..The prognosis is still unfavourable in patients with neonatal metabolic crises and non-responsiveness to cobalamin, in particular mut(0) patients. ..
- Schulte B, Bakkers J, Lanke K, Melchers W, Westerlaken C, Allebes W, et al. Detection of enterovirus RNA in peripheral blood mononuclear cells of type 1 diabetic patients beyond the stage of acute infection. Viral Immunol. 2010;23:99-104 pubmed publisher..The negative results for all throat and most stool samples argues against acute infection. Enterovirus presence was linked with HLA-DR4, but not with polymorphisms in MDA5 or OAS1. ..
- Van Santen S, de Mast Q, Luty A, Wiegerinck E, van der Ven A, Swinkels D. Iron homeostasis in mother and child during placental malaria infection. Am J Trop Med Hyg. 2011;84:148-51 pubmed publisher..Importantly, fetal hemoglobin and iron status were also unaffected, regardless of the presence of placental infection or maternal anemia. ..
- Hiemstra M, Otten R, de Leeuw R, van Schayck O, Engels R. The changing role of self-efficacy in adolescent smoking initiation. J Adolesc Health. 2011;48:597-603 pubmed publisher..Findings emphasize the need for more fine-grained analyses when looking at self-efficacy or other individual characteristics that might fluctuate over time. ..
- van der Linden J, Snelders E, Kampinga G, Rijnders B, Mattsson E, Debets Ossenkopp Y, et al. Clinical implications of azole resistance in Aspergillus fumigatus, The Netherlands, 2007-2009. Emerg Infect Dis. 2011;17:1846-54 pubmed publisher..0%. Our study found that multiazole resistance in A. fumigatus is widespread in the Netherlands and is associated with a high death rate for patients with invasive aspergillosis. ..
- von Rhein D, Cools R, Zwiers M, Van Der Schaaf M, Franke B, Luman M, et al. Increased neural responses to reward in adolescents and young adults with attention-deficit/hyperactivity disorder and their unaffected siblings. J Am Acad Child Adolesc Psychiatry. 2015;54:394-402 pubmed publisher..Future studies using standard monetary incentive delay task parameters are needed to replicate our findings. ..
- Montagner A, Kuper N, Opdam N, Bronkhorst E, Cenci M, Huysmans M. Wall-lesion development in gaps: The role of the adhesive bonding material. J Dent. 2015;43:1007-12 pubmed publisher..The presence and location of an adhesive bonding material in the composite-dentin gaps plays a role on the wall caries lesion development. ..
- Ivanova E, Arcolino F, Elmonem M, Rastaldi M, Giardino L, Cornelissen E, et al. Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. Kidney Int. 2016;89:1037-1048 pubmed publisher..Thus, our study extends the list of genetic disorders causing podocyte damage and provides the evidence of altered cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis. ..
- van Erven B, Berry G, Cassiman D, Connolly G, Forga M, Gautschi M, et al. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertil Steril. 2017;108:168-174 pubmed publisher..This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation techniques. ..
- Keijser L, van Tienen T, Schreuder H, Lemmens J, Pruszczynski M, Veth R. Fibrous dysplasia of bone: management and outcome of 20 cases. J Surg Oncol. 2001;76:157-66; discussion 167-8 pubmed..In polyostotic disease, expected outcomes were good, but in McCune-Albright syndrome, results were uniformly poor. J. Surg. Oncol. 2001;76:157-166. ..
- Borstlap W, Stoelinga P, Hoppenreijs T, van T Hof M. Stabilisation of sagittal split advancement osteotomies with miniplates: a prospective, multicentre study with two-year follow-up. Part I. Clinical parameters. Int J Oral Maxillofac Surg. 2004;33:433-41 pubmed..The sagittal split osteotomy fixed with miniplates appeared to be a relatively safe and reliable procedure giving rise to a high degree of patient satisfaction, despite the fact that some occlusal relapse was seen. ..
- Pauw R, Collin R, Huygen P, Hoefsloot L, Kremer H, Cremers C. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol. 2007;12:77-84 pubmed..However, subtle differences in terms of onset age and rate of progression seem to exist. ..
- Heil S, Hogeveen M, Kluijtmans L, van Dijken P, van de Berg G, Blom H, et al. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). J Inherit Metab Dis. 2007;30:811 pubmed
- Fuijkschot J, Cruysberg J, Willemsen M, Keunen J, Theelen T. Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography. Ophthalmology. 2008;115:870-5 pubmed..Because this macular dystrophy is present in all examined patients with SLS, familiarity with this maculopathy seems important for the diagnosis of this rare systemic disease. ..
- Beurskens C, Oosterhof J, Nijhuis van der Sanden M. Frequency and location of synkineses in patients with peripheral facial nerve paresis. Otol Neurotol. 2010;31:671-5 pubmed publisher..Synkinesis can affect eating, drinking, and speaking and can be socially distressing because of facial asymmetry and disruption of intended emotional expressions...
- de Bot S, van den Elzen R, Mensenkamp A, Schelhaas H, Willemsen M, Knoers N, et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry. 2010;81:1073-8 pubmed publisher..In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form...
- Wijnen J, Scheenen T, Klomp D, Heerschap A. 31P magnetic resonance spectroscopic imaging with polarisation transfer of phosphomono- and diesters at 3 T in the human brain: relation with age and spatial differences. NMR Biomed. 2010;23:968-76 pubmed publisher..The sRINEPT MRSI technique enables the exploration of phospholipid metabolism in brain diseases with a better sensitivity than was possible with earlier 31P MRS methods. ..
- Wassenberg T, Willemsen M, Geurtz P, Lammens M, Verrijp K, Wilmer M, et al. Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. Mol Genet Metab. 2010;101:349-56 pubmed publisher..CYP2D6-mediated conversion of tyramine into dopamine might be an interesting target for the development of new therapeutic strategies in AADC-deficiency. ..
- Overeem S, van Nues S, van der Zande W, Donjacour C, van Mierlo P, Lammers G. The clinical features of cataplexy: a questionnaire study in narcolepsy patients with and without hypocretin-1 deficiency. Sleep Med. 2011;12:12-8 pubmed publisher..However, the current definition of cataplexy is not very precise and the common distinction between "typical" and "atypical" cataplexy is not well codified...
- Harlingen D, Heesterbeek P, J de Vos M. High rate of complications and radiographic loosening of the biaxial total wrist arthroplasty in rheumatoid arthritis: 32 wrists followed for 6 (5–8) years. Acta Orthop. 2011;82:721-6 pubmed publisher..We present the outcome of the biaxial total wrist prosthesis (no longer available) after 5-8 years of follow-up...
- Rood A, Boons H, Ploegmakers J, van der Stappen W, Koëter S. Tape versus cast for non-operative treatment of primary patellar dislocation: a randomized controlled trial. Arch Orthop Trauma Surg. 2012;132:1199-203 pubmed publisher..05), and also after 5-year follow-up (P < 0.01). Knee function was better at 1-year follow-up. There were no cases of recurrent dislocation. Tape bandage immobilization seems superior to a cylinder cast even after 5 years. ..
- Hoentjen F, Haarhuis B, Drenth J, de Jong D. Elective switching from infliximab to adalimumab in stable Crohn's disease. Inflamm Bowel Dis. 2013;19:761-6 pubmed publisher..However, elective switching of anti-tumor necrosis factor therapy in stable CD should be carefully considered, given the risk of loss of response and the limited options for alternative maintenance therapies. ..
- Hiemstra M, Engels R, Barker E, van Schayck O, Otten R. Smoking-specific parenting and smoking onset in adolescence: the role of genes from the dopaminergic system (DRD2, DRD4, DAT1 genotypes). PLoS ONE. 2013;8:e61673 pubmed publisher..In conclusion, the findings indicated that the effects of smoking-specific parenting on smoking are similar for adolescent carriers and non-carriers of the dopaminergic system genes. ..
- Groen M, Whitehouse A, Badcock N, Bishop D. Associations between handedness and cerebral lateralisation for language: a comparison of three measures in children. PLoS ONE. 2013;8:e64876 pubmed publisher..They also imply that lateralisation of language and motor functions in the human brain show considerable independence from one another. ..
- van Santvoort F, Hosman C, Janssens J, van Doesum K, Reupert A, van Loon L. The Impact of Various Parental Mental Disorders on Children's Diagnoses: A Systematic Review. Clin Child Fam Psychol Rev. 2015;18:281-99 pubmed publisher..For all children, risk transmission is assumed to be partly specific since the studies indicate a strong tendency for children to develop the same disorder as their parent. ..
- Trung N, Hoi L, Thuong N, Toan T, Huong T, Hoa T, et al. Seroprevalence of Scrub Typhus, Typhus, and Spotted Fever Among Rural and Urban Populations of Northern Vietnam. Am J Trop Med Hyg. 2017;96:1084-1087 pubmed publisher..These results provide data on baseline population characteristics that may help inform development of Rickettsia serological testing criteria in future clinical studies. ..
- SÅ‚owikowska Hilczer J, Hirschberg A, Claahsen van der Grinten H, Reisch N, Bouvattier C, Thyen U, et al. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. Fertil Steril. 2017;108:822-831 pubmed publisher..The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD. ..
- Arias Vasquez A, Altink M, Rommelse N, Slaats Willemse D, Buschgens C, Fliers E, et al. CDH13 is associated with working memory performance in attention deficit/hyperactivity disorder. Genes Brain Behav. 2011;10:844-51 pubmed publisher..As such, our study may be viewed as exploratory, with the results presented providing interesting hypotheses for further testing. ..
- Michielsen K, De Meyer S, Ivanova O, Anderson R, Decat P, Herbiet C, et al. Reorienting adolescent sexual and reproductive health research: reflections from an international conference. Reprod Health. 2016;13:3 pubmed publisher..There was a plea to combine (quasi-)experimental effectiveness studies with evaluations of the development and implementation of ASRH promotion initiatives. ..
- 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. ..
- Jacobs J, Brasseur F, Hulsbergen van de Kaa C, van de Rakt M, Figdor C, Adema G, et al. Cancer-germline gene expression in pediatric solid tumors using quantitative real-time PCR. Int J Cancer. 2007;120:67-74 pubmed..Some rhabdomyosarcomas express several of these genes at high levels. Ewing's sarcomas have an overall low CGG expression. ..
- Friederich P, de Jong A, Mathus Vliegen L, Dekker E, Krieken H, Dees J, et al. Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008;6:1237-42 pubmed publisher..The aim of this study was to evaluate the long-term risk of developing adenomas and carcinomas in the pouch in a large cohort of Dutch FAP patients...
- Bijker E, Bastiaens G, Teirlinck A, van Gemert G, Graumans W, van de Vegte Bolmer M, et al. Protection against malaria after immunization by chloroquine prophylaxis and sporozoites is mediated by preerythrocytic immunity. Proc Natl Acad Sci U S A. 2013;110:7862-7 pubmed publisher..However, evidence is presented for immune recognition of P. falciparum-infected erythrocytes, suggesting memory responses unable to generate functional immunity. ..
- Buscher H, Schipper E, Wilder Smith O, Jansen J, van Goor H. Limited effect of thoracoscopic splanchnicectomy in the treatment of severe chronic pancreatitis pain: a prospective long-term analysis of 75 cases. Surgery. 2008;143:715-22 pubmed publisher..07). Splanchnicectomy offers prolonged (>4 years) benefit in 1 of 4 patients with severe chronic pancreatitis pain. Prior opioid use may adversely impact pain relief after splanchnicectomy. ..
- van Tongeren Alers M, van Esch M, Verdonk P, Johansson E, Hamberg K, Lagro Janssen T. Are new medical students' specialty preferences gendered? Related motivational factors at a Dutch medical school. Teach Learn Med. 2011;23:263-8 pubmed publisher..Changes in specialty preferences and motivational factors in pre- and post graduates should further assess the role of medical education. ..
- Baart A, van Noord P, Vergouwe Y, Moons K, Swinkels D, Wiegerinck E, et al. High prevalence of subclinical iron deficiency in whole blood donors not deferred for low hemoglobin. Transfusion. 2013;53:1670-7 pubmed publisher..This finding needs attention because these donors are at increased risk of developing iron deficiency affecting Hb formation and other cellular processes. ..