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2. The evolution of intractable Ménière's disease: attacks resolve over time.

Author

Gerritsen, F. R., Schenck, A. A., Locher, H., van de Berg, R., van Benthem, P. P., and Blom, H. M.

Subjects
MENIERE'S disease, VESTIBULAR apparatus, PATIENT selection, PATIENTS' attitudes, DISEASE duration
Abstract

Introduction: Knowledge of the natural and temporal course of a disease is important when deciding if an intervention is appropriate. In the case of Ménière's disease (MD), there is some evidence that attacks diminish over time, but the topic remains controversial. A conservative approach to surgery is usually followed in northern Europe, and leads to strict patient selection before considering surgery. Here, we describe the evolution of vertigo attacks among a group of intractable MD patients in whom surgery was considered. Methods: Retrospective cohort study in a Ménière's disease expert center. Patients with definite unilateral Ménière's disease and persisting vertigo attacks despite treatment with intratympanic steroid injections were included. All patients had been waitlisted for participation in a planned trial assessing non-ablative surgery. They were waitlisted between June 2016 and June 2021 without undergoing the surgical intervention. In September 2022, data were collected from patient's files and follow-up telephone interviews were conducted to assess the evolution of their vertigo attacks. Results: Thirty-five patients (54% male, mean age of onset 52 years, 51% right sided) were included in the analysis. Twenty-five patients (71%) eventually declined surgery. Of the 33 patients with complete information on vertigo attacks, 21 (64%) were free of vertigo attacks upon data collection, after a median disease duration of 5.3 years. Patients who did undergo surgery, had longer duration of disease than patients who did not. Discussion: Even in a population with intractable MD, most patients will experience relief of symptoms over time. On one hand, active treatment may accelerate relief of symptoms, but on the other hand, non-ablative therapies are of debatable effect and ablative intervention carries a risk of life long side effects. Therefore, any active intervention should be carefully considered. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Identifying effect modifiers of systemic hydrocortisone treatment initiated 7-14 days after birth in ventilated very preterm infants on long-term outcome: secondary analysis of a randomised controlled trial

Author

Halbmeijer, N.M., Sonnaert, M., Swarte, R.M., Koopman-Esseboom, C., Stuijvenberg, M. van, Mulder-de Tollenaer, S., Tan, R., Mohns, T., Bruneel, E., Steiner, K., Kramer, B.W., Debeer, A., Weissenbruch, M.M. van, Marechal, Y., Blom, H., Plaskie, K., Offringa, M., Merkus, M.P., Onland, W., Leemhuis, A.G., Kaam, A.H. van, Halbmeijer, N.M., Sonnaert, M., Swarte, R.M., Koopman-Esseboom, C., Stuijvenberg, M. van, Mulder-de Tollenaer, S., Tan, R., Mohns, T., Bruneel, E., Steiner, K., Kramer, B.W., Debeer, A., Weissenbruch, M.M. van, Marechal, Y., Blom, H., Plaskie, K., Offringa, M., Merkus, M.P., Onland, W., Leemhuis, A.G., and Kaam, A.H. van

Abstract

Contains fulltext : 305092.pdf (Publisher’s version ) (Closed access), OBJECTIVE: To explore clinical effect modifiers of systemic hydrocortisone in ventilated very preterm infants for survival and neurodevelopmental outcome at 2 years' corrected age (CA). DESIGN: Secondary analysis of a randomised placebo-controlled trial. SETTING: Dutch and Belgian neonatal intensive care units. PATIENTS: Infants born <30 weeks' gestational age (GA), ventilator-dependent in the second week of postnatal life. INTERVENTION: Infants were randomly assigned to systemic hydrocortisone (cumulative dose 72.5 mg/kg; n=182) or placebo (n=190). MAIN OUTCOME MEASURES: The composite of death or neurodevelopmental impairment (NDI) at 2 years' CA and its components. Candidate effect modifiers (GA, small for GA, respiratory index, sex, multiple births, risk of moderate/severe bronchopulmonary dysplasia or death) were analysed using regression models with interaction terms and subpopulation treatment effect pattern plots. RESULTS: The composite outcome was available in 356 (96.0%) of 371 patients (one consent withdrawn). For this outcome, treatment effect heterogeneity was seen across GA subgroups (<27 weeks: hydrocortisone (n=141) vs placebo (n=156), 54.6% vs 66.2%; OR 0.61 (95% CI 0.38 to 0.98); ≥27 weeks: hydrocortisone (n=30) vs placebo (n=31), 66.7% vs 45.2%; OR 2.43 (95% CI 0.86 to 6.85); p=0.02 for interaction). This effect was also found for the component death (<27 weeks: 20.1% vs 32.1%; OR 0.53 (95% CI 0.32 to 0.90); ≥27 weeks: 28.1% vs 16.1%; OR 2.04 (95% CI 0.60 to 6.95); p=0.049 for interaction) but not for the component NDI. No differential treatment effects were observed across other subgroups. CONCLUSION: This secondary analysis suggests that in infants <27 weeks' GA, systemic hydrocortisone may improve the outcome death or NDI, mainly driven by its component death. There was insufficient evidence for other selected candidate effect modifiers.

Published
2024

5. The DizzyQuest: to have or not to have… a vertigo attack?

Author

de Joode, L. E. G. H., Martin, E. C., Stultiens, J. J. A., Leue, C., Delespaul, P., Peeters, F., Erdkamp, A., van de Weijer, S., Blom, H., Bruintjes, T., Zwergal, A., Grill, E., Guinand, N., Perez-Fornos, A., van de Berg, M. R., Widdershoven, J., Kingma, H., and van de Berg, R.

Published
2020
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6. Newborn screening for homocystinurias: recent recommendations versus current practice

Author

Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., González-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G., Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H., and Zeyda, M.

Published
2018
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7. The Wheel of Fortune and Man’s Trust in God. On the Framing of 'Apollonius of Tyre' in Its European Transmission

Author

Schlusemann, Rita, Blom, Helwi, Richter, Anna Katharina; https://orcid.org/0000-0002-7165-7320, Wierzbicka-Trwoga, Krystyna, Schlusemann, R ( Rita ), Blom, H ( Helwi ), Richter, A K ( Anna Katharina ), Wierzbicka-Trwoga, K ( Krystyna ), Schlusemann, Rita, Blom, Helwi, Richter, Anna Katharina; https://orcid.org/0000-0002-7165-7320, Wierzbicka-Trwoga, Krystyna, Schlusemann, R ( Rita ), Blom, H ( Helwi ), Richter, A K ( Anna Katharina ), and Wierzbicka-Trwoga, K ( Krystyna )

Published
2023

8. Introduction

Author

Schlusemann, Rita, Blom, Helwi, Richter, Anna Katharina; https://orcid.org/0000-0002-7165-7320, Wierzbicka-Trwoga, Krystyna, Schlusemann, R ( Rita ), Blom, H ( Helwi ), Richter, A K ( Anna Katharina ), Wierzbicka-Trwoga, K ( Krystyna ), Schlusemann, Rita, Blom, Helwi, Richter, Anna Katharina; https://orcid.org/0000-0002-7165-7320, Wierzbicka-Trwoga, Krystyna, Schlusemann, R ( Rita ), Blom, H ( Helwi ), Richter, A K ( Anna Katharina ), and Wierzbicka-Trwoga, K ( Krystyna )

Published
2023

9. Zoetwatergetijdennatuur herleeft in Noordwaard

Author

Beringen, R., Rovers, J., Troelstra, W., Blom, H., Beringen, R., Rovers, J., Troelstra, W., and Blom, H.

Abstract

Zeven jaar na afronding van de herinrichting van de aan Nationaal Park De Biesbosch grenzende polder Noordwaard, hebben veel planten zich weten te vestigen in de afgegraven delen van dit gebied. Sommige plantensoorten blijken zich goed thuis te voelen in het nieuw ontstane zoetwatergetijdengebied. Opvallend is vooral het talrijke voorkomen van de Rode Lijstsoorten Rijstgras en Driekantige Bies.

Published
2023

10. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing

Author

Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium, Human genetics, Amsterdam Reproduction & Development (AR&D), Obstetrics and gynaecology, Pathology, Rehabilitation medicine, APH - Quality of Care, Obstetrics and Gynaecology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Public Health, Clinical Genetics, Obstetrics & Gynecology, Department of Psychology, Education and Child Studies, Clinical genetics, Amsterdam Reproduction & Development, Emergency Medicine, Research Methods and Techniques, RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and MUMC+: DA KG AIOS (9)

Subjects
Placenta, Trisomy, first tier test, Cohort Studies, genome-wide, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Genetics, Humans, cfDNA, Genetics (clinical), confined placental mosaicism, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Mosaicism, Other Research Radboud Institute for Health Sciences [Radboudumc 0], NIPS, fetal trisomy, PREECLAMPSIA, common trisomies, prenatal screening, CELL-FREE DNA, Female, NIPT, Follow-Up Studies, rare autosomal trisomies
Abstract

Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

Published
2022
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13. Prediction of non-recovery from ventilator-demanding acute respiratory failure, ARDS and death using lung damage biomarkers: data from a 1200-patient critical care randomized trial

Author

Jensen, Jens-Ulrik S., Itenov, Theis S., Thormar, Katrin M., Hein, Lars, Mohr, Thomas T., Andersen, Mads H., Løken, Jesper, Tousi, Hamid, Lundgren, Bettina, Boesen, Hans Christian, Johansen, Maria E., Ostrowski, Sisse R., Johansson, Pär I., Grarup, Jesper, Vestbo, Jørgen, Lundgren, Jens D., Steensen, M., Thornberg, K., Bestle, M., Strange, D., Lauritsen, A. Ø., Søe-Jensen, P., Reiter, N., Drenck, N. E., Fjeldborg, P., Fox, Z., Kjær, J., Kristensen, D., Rasmussen, M. B., Hallas, C. S.v., Zacho, M., Østergaard, C., Petersen, P. L., Hougaard, S., Mantoni, T., Nebrich, L., Bendtsen, A., Andersen, L. H., Bærentzen, F., Eversbusch, Andreas, Bømler, B., Martusevicius, R., Nielsen, T., Bådstøløkken, P. M., Grevstad, U., Hallas, P., Lindhardt, A., Galle, T., Graeser, K., Hohwu-Christensen, E., Gregersen, P., Pedersen, L. M., Rye, I., Cordtz, J., Madsen, K. R., Kirkegaard, P. R. C., Findsen, L., Nielsen, L. H., Pedersen, D. H., Andersen, J. H., Albrechtsen, C., Jacobsen, A., Jansen, T., Jensen, A. G., Jørgensen, H. H., Vazin, M., Lipsius, L., Skielboe, M., Thage, B., Thoft, C., Uldbjerg, M., Anderlo, E., Engsig, M., Hani, F., Jacobsen, R. B., Mulla, L., Skram, U., Waldau, T., Faber, T., Andersen, B., Gillesberg, I., Christensen, A., Hartmann, C., Albret, R., Dinesen, D. S., Gani, K., Ibsen, M., Petersen, J. A., Carl, P., Gade, E., Solevad, D., Heiring, C., Jørgensen, M., Ekelund, K., Afshari, A., Hammer, N., Bitsch, M., Hansen, J. S., Wamberg, C., Clausen, T. D., Winkel, R., Huusom, J., Buck, D. L., Grevstad, U., Lenz, K., Mellado, P., Karacan, H., Hidestål, J., Høgagard, J., Højbjerg, J., Højlund, J., Hestad, S., Østergaard, M., Wesche, N., Nielsen, S. A., Christensen, H., Blom, H., Jensen, C. H., Nielsen, K., Holler, N. G., Rossau, C. D., Glæemose, M., Wranér, M. B., Thomsen, C. B., Rasmussen, B., Lund-Rasmussen, C., Bech, B., Bjerregaard, K., Spliid, L., Nielsen, L. L. W., Larsen, K. M., Goldinger, M., Illum, D., Jessen, C., Christiansen, A., Berg, A., Elkmann, T., Pedersen, J. A. K., Simonsen, M., Joensen†, H., Alstrøm, H., Svane, C., Engquist, A., and For The Procalcitonin And Survival Study (PASS) Group

Published
2016
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15. Arterial stiffness is not associated with bone parameters in an elderly hyperhomocysteinemic population

Author

van Dijk, S. C., de Jongh, R. T., Enneman, A. W., Ham, A. C., Swart, K. M. A., van Wijngaarden, J. P., van der Zwaluw, N. L., Brouwer-Brolsma, E. M., van Schoor, N. M., Dhonukshe-Rutten, R. A. M., Lips, P., de Groot, C. P. G. M., Smulders, Y. M., Blom, H. J., Feskens, E. J., Geleijnse, J. M., van den Meiracker, A. H., Mattace Raso, F. U. S., Uitterlinden, A. G., Zillikens, M. C., and van der Velde, N.

Published
2016
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16. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Author

Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., Galjaard, R.H., Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., and Galjaard, R.H.

Abstract

Item does not contain fulltext, In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.

Published
2022

19. Physical fitness, activity and hand-grip strength are not associated with arterial stiffness in older individuals

Author

van Dijk, S. C., Swart, K. M. A., Ham, A. C., Enneman, A. W., van Wijngaarden, J. P., Feskens, E. J., Geleijnse, J. M., de Jongh, R. T., Blom, H. J., Dhonukshe-Rutten, R. A. M., de Groot, L. C. P. G. M., van Schoor, N. M., Lips, P., Uitterlinden, A. G., Mattace Raso, F. U. S., Smulders, Y. M., van den Meiracker, A. H., and van der Velde, N.

Published
2015
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22. The DizzyQuest: relation between self-reported hearing loss, tinnitus and objective hearing thresholds in patients with Meniere’s disease

Author

Martin, E. C., primary, Verkaik, R., additional, Stultiens, J. J. A., additional, van de Berg, M. R., additional, Janssen, A. M. L., additional, Leue, C., additional, Delespaul, P., additional, Peeters, F., additional, Widdershoven, J., additional, Erdkamp, A., additional, van de Weijer, S. C. F., additional, Blom, H., additional, Zwergal, A., additional, Grill, E., additional, Guinand, N., additional, Perez-Fornos, A., additional, Tse, D., additional, and van de Berg, R., additional

Published
2021
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23. Effect of Hydrocortisone Therapy Initiated 7 to 14 Days After Birth on Mortality or Bronchopulmonary Dysplasia Among Very Preterm Infants Receiving Mechanical Ventilation

Author

Onland, W., Cools, F., Kroon, A., Rademaker, K., Merkus, M.P., Dijk, P.H., Straaten, H.L. van, Pas, A.B.T., Mohns, T., Bruneel, E., Heijst, A.F. van, Kramer, B.W., Debeer, A., Zonnenberg, I., Marechal, Y., Blom, H., Plaskie, K., Offringa, M., Kaam, A.H. van, Nuytemans, D.H., Loo, M.V. de, Kemper, E.M., Vereeck, I., Heide-Jalving, M. van der, Kort, E. de, Cavartorta, E., Rassart, A., Eerdekens, A., Stuijvenberg, M., Matthijsse, R., Boode, W. de, Niemarkt, H., Hattum, I. van, Jebbink, L.G., Mulder-de Tollenaer, S.M., Tan, R., Theyskens, C., Weissenbruch, M. van, Dierckx, E., Rigo, V., Vrijlandt, E., Tweel, I. van der, Baal, C. van, Wildt, S. de, STOP-BPD Study Grp, Data Safety Monitoring Comm, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, STOP-BPD Study Grp, Data Safety Monitoring Comm, Clinical sciences, Growth and Development, Neonatology, Pediatrics, Groningen Research Institute for Asthma and COPD (GRIAC), ARD - Amsterdam Reproduction and Development, APH - Methodology, APH - Quality of Care, Other Research, Clinical Research Unit, and APH - Health Behaviors & Chronic Diseases

Subjects
Hydrocortisone, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Anti-Inflammatory Agents, CHILDREN, Infant, Premature, Diseases, 01 natural sciences, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Pregnancy, Medicine, Infant, Very Low Birth Weight, 030212 general & internal medicine, Treatment Failure, Original Investigation, Bronchopulmonary Dysplasia, Incidence, TREAT, Gestational age, General Medicine, Female, Life Sciences & Biomedicine, Infant, Premature, medicine.medical_specialty, Birth weight, Placebo, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Time-to-Treatment, 03 medical and health sciences, MORBIDITY, Medicine, General & Internal, All institutes and research themes of the Radboud University Medical Center, Double-Blind Method, General & Internal Medicine, Intensive care, Internal medicine, Intensive Care Units, Neonatal, Humans, 0101 mathematics, Science & Technology, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], 010102 general mathematics, Postmenstrual Age, Infant, Newborn, PREVENT, Odds ratio, medicine.disease, Respiration, Artificial, Bronchopulmonary dysplasia, RISK-FACTORS, Human medicine, POSTNATAL CORTICOSTEROIDS, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business
Abstract

IMPORTANCE: Dexamethasone initiated after the first week of life reduces the rate of death or bronchopulmonary dysplasia (BPD) but may cause long-term adverse effects in very preterm infants. Hydrocortisone is increasingly used as an alternative, but evidence supporting its efficacy and safety is lacking. OBJECTIVE: To assess the effect of hydrocortisone initiated between 7 and 14 days after birth on death or BPD in very preterm infants. DESIGN, SETTING, AND PARTICIPANTS: Double-blind, placebo-controlled randomized trial conducted in 19 neonatal intensive care units in the Netherlands and Belgium from November 15, 2011, to December 23, 2016, among preterm infants with a gestational age of less than 30 weeks and/or birth weight of less than 1250 g who were ventilator dependent between 7 and 14 days of life, with follow-up to hospital discharge ending December 12, 2017. INTERVENTIONS: Infants were randomly assigned to receive a 22-day course of systemic hydrocortisone (cumulative dose, 72.5 mg/kg) (n = 182) or placebo (n = 190). MAIN OUTCOMES AND MEASURES: The primary outcome was a composite of death or BPD assessed at 36 weeks' postmenstrual age. Twenty-nine secondary outcomes were analyzed up to hospital discharge, including death and BPD at 36 weeks' postmenstrual age. RESULTS: Among 372 patients randomized (mean gestational age, 26 weeks; 55% male), 371 completed the trial; parents withdrew consent for 1 child treated with hydrocortisone. Death or BPD occurred in 128 of 181 infants (70.7%) randomized to hydrocortisone and in 140 of 190 infants (73.7%) randomized to placebo (adjusted risk difference, -3.6% [95% CI, -12.7% to 5.4%]; adjusted odds ratio, 0.87 [95% CI, 0.54-1.38]; P = .54). Of 29 secondary outcomes, 8 showed significant differences, including death at 36 weeks' postmenstrual age (15.5% with hydrocortisone vs 23.7% with placebo; risk difference, -8.2% [95% CI, -16.2% to -0.1%]; odds ratio, 0.59 [95% CI, 0.35-0.995]; P = .048). Twenty-one outcomes showed nonsignificant differences, including BPD (55.2% with hydrocortisone vs 50.0% with placebo; risk difference, 5.2% [95% CI, -4.9% to 15.2%]; odds ratio, 1.24 [95% CI, 0.82-1.86]; P = .31). Hyperglycemia requiring insulin therapy was the only adverse effect reported more often in the hydrocortisone group (18.2%) than in the placebo group (7.9%). CONCLUSIONS AND RELEVANCE: Among mechanically ventilated very preterm infants, administration of hydrocortisone between 7 and 14 days after birth, compared with placebo, did not improve the composite outcome of death or BPD at 36 weeks' postmenstrual age. These findings do not support the use of hydrocortisone for this indication. TRIAL REGISTRATION: Netherlands National Trial Register Identifier: NTR2768. ispartof: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION vol:321 issue:4 pages:354-363 ispartof: location:United States status: published

Published
2019
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25. Reappraising the History of the Jews in the Netherlands

Author

Blom, H., Wertheim, D.J., Berg, H., Wallet, B.T., and ASH (FGw)

Abstract

The two decades since the last authoritative general history of Dutch Jews was published have seen such substantial developments in historical understanding that new assessment has become an imperative. This volume offers an indispensable survey from a contemporary viewpoint that reflects the new preoccupations of European historiography and allows the history of Dutch Jewry to be more integrated with that of other European Jewish histories. Historians from both older and newer generations shed significant light on all eras, providing fresh detail that reflects changed emphases and perspectives. In addition to such traditional subjects as the Jewish community’s relationship with the wider society and its internal structure, its leaders, and its international affiliations, new topics explored include the socio-economic aspects of Dutch Jewish life seen in the context of the integration of minorities more widely; a reassessment of the Holocaust years and consideration of the place of Holocaust memorialization in community life; and the impact of multiculturalist currents on Jews and Jewish politics. Memory studies, diaspora studies, postcolonial studies, and digital humanities all play their part in providing the fullest possible picture. This wide-ranging scholarship is complemented by a generous plate section with eighty fully captioned colour illustrations.

Published
2021

26. From Nations to Citizens

Author

Zwiep, I.E., Blom, H., Wertheim, D.J., Berg, H., Wallet, B.T., Cultural Heritage and Identity, and ASH (FGw)

Subjects
Judaism, Political science, media_common.quotation_subject, Economic history, Enlightenment, Shadow (psychology), media_common
Published
2021
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27. A fast and simple clearing and swelling protocol for 3D in-situ imaging of the kidney across scales

Author

Unnersjö-Jess, D., Butt, L., Höhne, M., Witasp, A., Kühne, L., Hoyer, P. F., Patrakka, J., Brinkkötter, P. T., Wernerson, A., Schermer, B., Benzing, T., Scott, L., Brismar, H., Blom, H., Unnersjö-Jess, D., Butt, L., Höhne, M., Witasp, A., Kühne, L., Hoyer, P. F., Patrakka, J., Brinkkötter, P. T., Wernerson, A., Schermer, B., Benzing, T., Scott, L., Brismar, H., and Blom, H.

Abstract

In recent years, many light-microscopy protocols have been published for visualization of nanoscale structures in the kidney. These protocols present researchers with new tools to evaluate both foot process anatomy and effacement, as well as protein distributions in foot processes, the slit diaphragm and in the glomerular basement membrane. However, these protocols either involve the application of different complicated super resolution microscopes or lengthy sample preparation protocols. Here, we present a fast and simple, five-hour long procedure for three-dimensional visualization of kidney morphology on all length scales. The protocol combines optical clearing and tissue expansion concepts to produce a mild swelling, sufficient for resolving nanoscale structures using a conventional confocal microscope. We show that the protocol can be applied to visualize a wide variety of pathologic features in both mouse and human kidneys. Thus, our fast and simple protocol can be beneficial for conventional microscopic evaluation of kidney tissue integrity both in research and possibly in future clinical routines., QC 20211215

Published
2021
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29. New National And Regional Bryophyte Records, 63

Author

Ellis, L. T., Afonina, O. M., Czernyadjeva, I., V, Konoreva, L. A., Potemkin, A. D., Kotkova, V. M., Alatas, M., Blom, H. H., Boiko, M., Cabral, R. A., Jimenez, S., Dagnino, D., Turcato, C., Minuto, L., Erzberger, P., Ezer, T., Galanina, O., V, Hodgetts, N., Ignatov, M. S., and Ignatova, A.

Abstract

Öz bulunamadı.

Published
2020

30. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Author

Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Genetics, and Cell biology

Subjects
0301 basic medicine, CVS MOSAICISM, FETAL DNA, Placenta, DUTCH LABORATORIES, MATERNAL MALIGNANCIES, Aneuploidy, noninvasive testing, Chromosome Disorders, Trisomy, genome-wide NIPS, Bioinformatics, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, TERM PLACENTAE, Original Research Article, Confined placental mosaicism, Genetics (clinical), confined placental mosaicism, 030219 obstetrics & reproductive medicine, ANEUPLOIDIES, Pregnancy Outcome, Genomics, ASSOCIATION, trisomy 21, CONFIRMATION, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Cell-free fetal DNA, CELL-FREE DNA, Female, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, DNA Copy Number Variations, Prenatal diagnosis, Chromosome aberration, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Placenta/metabolism, Humans, Genetic Testing, PRENATAL-DIAGNOSIS, Gynecology, Chromosome Aberrations, Autosome, Whole Genome Sequencing, business.industry, ANEUPLOIDY, Chromosome Disorders/diagnosis, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Chromosome, medicine.disease, Genomics/methods, 030104 developmental biology, prenatal screening, business, FOLLOW-UP
Abstract

PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chromosome aberrations. The latter were of fetal (n = 10), placental (n = 22), maternal (n = 1) or unknown (n = 7). One case lacked cytogenetic follow-up. Nine of the 10 fetal cases were associated with an abnormal phenotype. Thirteen of the 22 (59%) placental aberrations were associated with fetal congenital anomalies and/or poor fetal growth (

Published
2018
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31. New national and regional bryophyte records, 64

Author

Ellis, L. T., primary, Alikhadzhiev, M. Kh., additional, Erzhapova, R. S., additional, Blom, H. H., additional, Bednarek-Ochyra, H., additional, Burghardt, M., additional, Cano, M. J., additional, Czernyadjeva, I. V., additional, Kuzmina, E. Yu., additional, Potemkin, A. D., additional, Doroshina, G. Ya., additional, Dagnino, D., additional, Turcato, C., additional, Minuto, L., additional, Drapela, P., additional, Dulin, M. V., additional, Fuertes, E., additional, Graulich, A., additional, Hassel, K., additional, Hedenäs, L., additional, Hofton, T. H., additional, Høitomt, T., additional, Jukonienė, I., additional, Kırmacı, M., additional, Koroleva, N. E., additional, Krajewski, Ł., additional, Kropik, M., additional, Kürschner, H., additional, Kushnevskaya, E. V., additional, Larraín, J., additional, Lebouvier, M., additional, Maksimov, A. I., additional, Pisarenko, O. Yu., additional, Plášek, V., additional, Skoupá, Z., additional, Popov, S. Yu., additional, Fedosov, V. E., additional, Puglisi, M., additional, Stebel, A., additional, Ştefănut, S., additional, Vončina, G., additional, Wierzgoń, M., additional, and Guo, S.-L., additional

Published
2020
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32. An annotated checklist of bryophytes of Europe, Macaronesia and Cyprus

Author

Hodgetts, N. G., primary, Söderström, L., additional, Blockeel, T. L., additional, Caspari, S., additional, Ignatov, M. S., additional, Konstantinova, N. A., additional, Lockhart, N., additional, Papp, B., additional, Schröck, C., additional, Sim-Sim, M., additional, Bell, D., additional, Bell, N. E., additional, Blom, H. H., additional, Bruggeman-Nannenga, M. A., additional, Brugués, M., additional, Enroth, J., additional, Flatberg, K. I., additional, Garilleti, R., additional, Hedenäs, L., additional, Holyoak, D. T., additional, Hugonnot, V., additional, Kariyawasam, I., additional, Köckinger, H., additional, Kučera, J., additional, Lara, F., additional, and Porley, R. D., additional

Published
2020
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33. Gender bias and the journal of roman studies

Author

Kelly, C., Thonemann, P., Borg, B., Hillner, J., Lavan, M., Morley, N., Mullen, A., Orlandi, S., Pillinger, E., Prag, J., van der Blom, H., and Whitton, C.

Abstract

Reflecting on present unease about structural biases in the discipline, and aiming to offer a data-rich response to some recent criticisms of this Journal, the Editorial Board has undertaken a study of the representation of female scholars in the Journal of Roman Studies. To that end, we have gathered data on publications, submissions and JRS Editorial Board membership for the past fifteen years, from Volume 95 (2005) through to the present volume, Volume 109 (2019). The data are set out in the final section (VII), following a brief review of the main results. Our goal here is neither to present a definitive analysis, nor to offer a commentary on the underlying causes of the patterns revealed (on which we expect much fruitful discussion elsewhere). Rather, the JRS Editorial Board aims to make key data available both to inform a much wider debate within the profession as a whole and, importantly, to inform this Journal’s policies, procedures and active outreach. The Board is also acutely aware that any analysis of gender bias needs to be framed carefully — both by an awareness that there are other under-represented groups in the discipline (on which our data in their current form would regrettably only offer a most imperfect picture), and by a sensitivity to the limitations of a conception of gender as a simple binary.

Published
2019

34. 'He who saw the Deep': History as ritual in the material world of Mesopotamia

Author

Collins, P, Baines, J, van der Blom, H, Chen, YS, and Rood, T

Abstract

In many respects the Mesopotamian view of the universe had no room for history as a concept. Yet there was an acknowledged sense of deep time, made evident through inscribed and sculpted objects created by kings to inform posterity of their achievements. Such texts and images were fashioned from materials that ensured they existed beyond the lives of their creators. In this way rulers aligned themselves with future kings, who would uncover and even curate these works, but also, and perhaps more significantly, established a connection with past monarchs whose own records were preserved in the structure and foundations of buildings. This chapter explores the ways in which the creation of temples, palaces and associated monuments were understood as ritual acts that were tied to a historical consciousness and to the notion of a contractual relationship between the king and the gods established at the beginning of time. Indeed, images and monuments were the medium through which the symbiotic relationship between the king and the gods was maintained and the restoration of a divinely ordered world of the past achieved.

Published
2019

35. CO2-Lasertonsillotomy Under Local Anesthesia in Adults

Author

Chung, J., Helmond, N. van, Geet, R. van, Benthem, P.P. van, and Blom, H.

Subjects
Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]
Abstract

Contains fulltext : 215194.pdf (Publisher’s version ) (Open Access) Tonsil-related complaints are very common among the adult population. Tonsillectomy under general anesthesia is currently the most performed surgical treatment in adults for such complaints. Unfortunately, tonsillectomy is an invasive treatment associated with a high complication rate and a long recovery time. Complications and a long recovery time are mostly related to removing the vascular and densely innervated capsule of the tonsils. Recently, CO2-lasertonsillotomy under local anesthesia has been demonstrated to be a viable alternative treatment for tonsil-related disease with a significantly shorter and less painful recovery period. The milder side-effect profile of CO2-lasertonsillotomy is likely related to leaving the tonsil capsule intact. The aim of the current report is to present a concise protocol detailing the execution of CO2-lasertonsillotomy under local anesthesia. This intervention has been performed successfully in our hospital in more than 1,000 patients and has been found to be safe and to be associated with a steep learning curve.

Published
2019
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36. A miniature world in decline:European Red List of mosses, liverworts and hornworts

Author

Hodgetts, N. (Nick), Cálix, M. (Marta), Englefield, E. (Eve), Fettes, N. (Nicholas), Criado, M. G. (Mariana García), Patin, L. (Lea), Nieto, A. (Ana), Bergamini, A. (Ariel), Bisang, I. (Irene), Baisheva, E. (Elvira), Campis, P. (Patrizia), Cogon, A. (Annalena), Hallingbäck, T. (Tomas), Konstantinova, N. (Nadya), Lockhart, N. (Neil), Sabovljevic, M. (Marko), Schnyder, N. (Norbert), Schröck, C. (Christian), Sérgio, C. (Cecilia), Sim Sim, M. (Manuela), Vrba, J. (Jan), Ferreira, C. C. (Catarina C.), Afonina, O. (Olga), Blockeel, T. (Tom), Blom, H. (Hans), Caspari, S. (Steffen), Gabriel, R. (Rosalina), Garcia, C. (César), Garilleti, R. (Ricardo), Mancebo, J. G. (Juana González), Goldberg, I. (Irina), Hedenäs, L. (Lars), Holyoak, D. (David), Hugonnot, V. (Vincent), Huttunen, S. (Sanna), Ignatov, M. (Mikhail), Ignatova, E. (Elena), Infante, M. (Marta), Juutinen, R. (Riikka), Kiebache, T. (Thomas), Köckinger, H. (Heribert), Kučera, J. (Jan), Lönnell, N. (Niklas), Lüth, M. (Michael), Martins, A. (Anabela), Maslovsky, O. (Oleg), Papp, B. (Beáta), Porley, R. (Ron), Rothero, G. (Gordon), Söderström, L. (Lars), Ştefǎnuţ, S. (Sorin), Syrjänen, K. (Kimmo), Untereiner, A. (Alain), Váňa, J. (Jiri), Vanderpoorten, A. (Alain), Vellak, K. (Kai), Aleffi, M. (Michele), Bates, J. (Jeff), Bell, N. (Neil), Brugués, M. (Monserrat), Cronberg, N. (Nils), Denyer, J. (Jo), Duckett, J. (Jeff), During, H. (H.J.), Enroth, J. (Johannes), Fedosov, V. (Vladimir), Flatberg, K.-I. (Kjell-Ivar), Ganeva, A. (Anna), Gorski, P. (Piotr), Gunnarsson, U. (Urban), Hassel, K. (Kristian), Hespanhol, H. (Helena), Hill, M. (Mark), Hodd, R. (Rory), Hylander, K. (Kristofer), Ingerpuu, N. (Nele), Laaka-Lindberg, S. (Sanna), Lara, F. (Francisco), Mazimpaka, V. (Vicente), Mežaka, A. (Anna), Müller, F. (Frank), Orgaz, J. D. (Jose David), Patiño, J. (Jairo), Pilkington, S. (Sharon), Puche, F. (Felisa), Ros, R. M. (Rosa M.), Rumsey, F. (Fred), Segarra-Moragues, J. (J.G.), Seneca, A. (Ana), Stebel, A. (Adam), Virtanen, R. (Risto), Weibull, H. (Henrik), Wilbraham, J. (Jo), and Żarnowiec, J. (Jan)

Subjects
Conservation status, Bryophytes, Mosses, Extinction, Assessments, Plants, Red Data/Red List, Red List assessments, Threatened species
Abstract

The European Red List is a review of the status of European species according to IUCN regional Red Listing guidelines. It identifies those species that are threatened with extinction at the regional level — in order that appropriate conservation action can be taken to improve their status. This publication is a summary of the conservation status of the European species of mosses, liverworts and hornworts, collectively known as bryophytes. It provides the first comprehensive, region-wide assessment of bryophytes and it identifies those species that are threatened with extinction at a European level, so that appropriate policy measures and conservation actions, based on the best available evidence, can be taken to improve their status. The geographical scope is continentwide, extending from Iceland in the west to the Urals in the east, and from Franz Josef Land in the north to the Canary Islands in the south. The Caucasus region is not included.

Published
2019

37. A miniature world in decline: European Red List of Mosses, Liverworts and Hornworts

Author

Hodgetts, N., Hodgetts, N., Calix, M., Englefield, E., Fettes, N., Garcia Criado, M., Patin, L., Nieto, A., Bergamini, A., Bisang, I., Baisheva, E., Campisi, P., Cogoni, A., Hallingback, T., Konstantinova, N., Lockhart, N., Sabovljević, Marko, Schnyder, N., Schrock, C., Sergio, C., Sim Sim, M., Vrba, J., Ferreira, C.C, Afonina, O., Blockeel, T., Blom, H., Caspari, S., Gabriel, R., Garcia, C., Garilleti, R., Gonzalez Mancebo, J., Goldberg, I., Hedenas, L., Holyoak, D., Hugonnot, V., Huttunen, S., Ignatov, M., Ignatova,E., Infante, M., Juutinen, R., Kiebacher, T., Kockinger, H., Kučera, J., Lonnell, N., Luth, M., Martins, A., Maslovsky, O., Papp, B., Porley, R., Rothero, G., Soderstrom, L., Ştefǎnuţ, S., Syrjanen, K., Untereiner, A., Vaňa, J., Vanderpoorten, A., Vellak, K., Aleffi, M., Bates, J., Bell, N., Brugues, M., Cronberg, N., Denyer, J., Duckett, J., During H.J., Enroth,J., Fedosov, V., Flatberg, K.-I., Ganeva, A., Gorski, P., Gunnarsson, U., Hasse, l K., Hespanhol, H., Hill, M., Hodd, R., Hylander, K., Ingerpuu, N., Laaka-Lindberg, S., Lara, F., Mazimpaka, V., Mežaka, A., Muller, F., Orgaz, J.D., Patino, J., Pilkington, S., Puche, F., Ros, R.M., Rumsey, F., Segarra-Moragues, J.G., Seneca, A., Stebel, A., Virtanen, R., Weibull, H., Wilbraham, J., Żarnowiec, J., Hodgetts, N., Hodgetts, N., Calix, M., Englefield, E., Fettes, N., Garcia Criado, M., Patin, L., Nieto, A., Bergamini, A., Bisang, I., Baisheva, E., Campisi, P., Cogoni, A., Hallingback, T., Konstantinova, N., Lockhart, N., Sabovljević, Marko, Schnyder, N., Schrock, C., Sergio, C., Sim Sim, M., Vrba, J., Ferreira, C.C, Afonina, O., Blockeel, T., Blom, H., Caspari, S., Gabriel, R., Garcia, C., Garilleti, R., Gonzalez Mancebo, J., Goldberg, I., Hedenas, L., Holyoak, D., Hugonnot, V., Huttunen, S., Ignatov, M., Ignatova,E., Infante, M., Juutinen, R., Kiebacher, T., Kockinger, H., Kučera, J., Lonnell, N., Luth, M., Martins, A., Maslovsky, O., Papp, B., Porley, R., Rothero, G., Soderstrom, L., Ştefǎnuţ, S., Syrjanen, K., Untereiner, A., Vaňa, J., Vanderpoorten, A., Vellak, K., Aleffi, M., Bates, J., Bell, N., Brugues, M., Cronberg, N., Denyer, J., Duckett, J., During H.J., Enroth,J., Fedosov, V., Flatberg, K.-I., Ganeva, A., Gorski, P., Gunnarsson, U., Hasse, l K., Hespanhol, H., Hill, M., Hodd, R., Hylander, K., Ingerpuu, N., Laaka-Lindberg, S., Lara, F., Mazimpaka, V., Mežaka, A., Muller, F., Orgaz, J.D., Patino, J., Pilkington, S., Puche, F., Ros, R.M., Rumsey, F., Segarra-Moragues, J.G., Seneca, A., Stebel, A., Virtanen, R., Weibull, H., Wilbraham, J., and Żarnowiec, J.

Published
2019

38. Relativering en normbesef

Author

Blom, H., Universitäts- und Landesbibliothek Münster, and Faculteit der Letteren

Subjects
Benelux
Published
2018

39. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

Author

Huemer, M. Diodato, D. Martinelli, D. Olivieri, G. Blom, H. Gleich, F. Kölker, S. Kožich, V. Morris, A.A. Seifert, B. Froese, D.S. Baumgartner, M.R. Dionisi-Vici, C. Martin, C.A. Baethmann, M. Ballhausen, D. Blasco-Alonso, J. Boy, N. Bueno, M. Burgos Peláez, R. Cerone, R. Chabrol, B. Chapman, K.A. Couce, M.L. Crushell, E. Dalmau Serra, J. Diogo, L. Ficicioglu, C. García Jimenez, M.C. García Silva, M.T. Gaspar, A.M. Gautschi, M. González-Lamuño, D. Gouveia, S. Grünewald, S. Hendriksz, C. Janssen, M.C.H. Jesina, P. Koch, J. Konstantopoulou, V. Lavigne, C. Lund, A.M. Martins, E.G. Meavilla Olivas, S. Mention, K. Mochel, F. Mundy, H. Murphy, E. Paquay, S. Pedrón-Giner, C. Ruiz Gómez, M.A. Santra, S. Schiff, M. Schwartz, I.V. Scholl-Bürgi, S. Servais, A. Skouma, A. Tran, C. Vives Piñera, I. Walter, J. Weisfeld-Adams, J. the EHOD consortium

Abstract

Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design. © 2018 SSIEM

Published
2018

41. Scanning the Issue

Author

Eskandarian, Azim, primary, Jung, S., additional, Hong, S., additional, Lee, K., additional, Tseng, C. -M., additional, Chau, S. C. -K., additional, Liu, X., additional, Lan, C. -L., additional, Chang, G.-L., additional, Zou, L., additional, Wen, T., additional, Wang, Z., additional, Chen, L., additional, Roberts, C., additional, Yu, W., additional, Li, Y., additional, Chu, F., additional, Feng, C., additional, Chu, C., additional, Zhou, M., additional, Singh, D., additional, Mohan, C. K., additional, Gupta, S., additional, Vasardani, M., additional, Winter, S., additional, Di, X., additional, Zhao, Y., additional, Huang, S., additional, Liu, H. X., additional, Sayin, M. O., additional, Lin, C. -W., additional, Shiraishi, S., additional, Shen, J., additional, Basar, T., additional, Zhang, Y., additional, Wang, H., additional, Yuan, T., additional, Lv, J., additional, Xu, T., additional, Diao, Z., additional, Zhang, D., additional, Wang, X., additional, Xie, K., additional, He, S., additional, Lu, X., additional, Ji, B., additional, Yuan, X., additional, Yuan, Y., additional, Huang, Z., additional, Chu, D., additional, Wu, C., additional, He, Y., additional, Li, J., additional, Zhang, B., additional, Zhong, Z., additional, He, R., additional, Dahman, G., additional, Ding, J., additional, Lin, S., additional, Ai, B., additional, Yang, M., additional, Pamula, T., additional, Hu, X., additional, Xu, X., additional, Xiao, Y., additional, Chen, H., additional, Qin, J., additional, Heng, P. -A., additional, Masouleh, A. Z., additional, Hellinga, B. R., additional, Ghahramani, M., additional, Hon, C. T., additional, Xu, Y., additional, Prats, X., additional, Mitici, M., additional, Blom, H. A. P., additional, Nieto, R. M., additional, Garcia-Martin, A., additional, Hauptmann, A. G., additional, Martinez, J. M., additional, Wang, Y., additional, Zhang, J., additional, Lu, G., additional, Pozueco, L., additional, Tuero, A. G., additional, Paneda, A. G., additional, Paneda, X. G., additional, Melendi, D., additional, Garcia, R., additional, Orueta, G. D., additional, Rionda, A., additional, Yazhemsky, D., additional, Rashid, M., additional, Sirouspour, S., additional, Li, H., additional, Wang, P., additional, Shen, C., additional, Yi, Z., additional, Bauer, P. H., additional, Tang, C., additional, Ceder, A., additional, Zhao, S., additional, Ge, Y. -E., additional, de Almeida, T. T., additional, Nacif, J. A. M., additional, Bhering, F. P., additional, Junior, J. G. R., additional, Shishanov, S., additional, Bystrov, A., additional, Hoare, E. G., additional, Stove, A., additional, Gashinova, M., additional, Cherniakov, M., additional, Tran, T. -Y., additional, Clarke, N., additional, Hussain, K. F., additional, Afifi, M., additional, and Moussa, G., additional

Published
2019
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43. A measurement of the Tau topological branching ratios

Author

Abreu, P., Adam, W., Adye, T., Adzic, P., Albrecht, Z., Alderweireld, T., Alekseev, G. D., Alemany, R., Allmendinger, T., Allport, P. P., Almehed, S., Amaldi, U., Amapane, N., Amato, S., Anashkin, E., Anassontzis, E. G., Andersson, P., Andreazza, A., Andringa, S., Anjos, N., Antilogus, P., Apel, W. D., Arnoud, Y., Asman, B., Augustin, J. -E, Augustinus, A., Baillon, P., Ballestrero, A., Bambade, P., Barao, F., Barbiellini, Guido, Barbier, R., Bardin, D. Yu, Barker, G., Baroncelli, A., Battaglia, M., Baubillier, M., Becks, K. H., Begalli, M., Behrmann, A., Bellunato, T. F., Belokopytov, Yu, Belous, K., Benekos, N. C., Benvenuti, A. C., Berat, C., Berggren, M., Berntzon, L., Bertrand, D., Besancon, M., Besson, N., Bilenkii, M. S., Bloch, D., Blom, H. M., Bol, L., Bonesini, M., Boonekamp, M., Booth, P. S. L., Borisov, G., Bosio, C., Botner, O., Boudinov, E., Bouquet, B., Bowcock, T. J. V., Boyko, I., Bozovic, I., Bracko, M., Branchini, P., Brenner, R. A., Brueckman, P., Brunet, J. M., Bugge, L., Buschmann, P., Caccia, M., Calvi, M., Camporesi, T., Canale, V., Carena, F., Carroll, L., Caso, C., Castillo-Gimenez, M. V., Cattai, A., Cavallo, F. R., Chapkin, M., Charpentier, P., Checchia, P., Chelkov, G. A., Chierici, R., Shlyapnikov, P., Chochula, P., Chorowicz, V., Chudoba, J., Cieslik, K., Collins, P., Contri, R., Cortina, E., Cosme, G., Cossutti, F., Costa, M., Crawley, H. B., Crennell, D., Croix, J., Crosetti, G., Cuevas-Maestro, J., Czellar, S., D Hondt, J., Dalmau, J., Davenport, M., Da Silva, W., Della Ricca, G., Delpierre, P. A., Demaria, N., Angelis, A., Boer, W., Clercq, C., Lotto, B., Min, A., Paula, L. S., Dijkstra, H., Di Ciaccio, L., Doroba, K., Dracos, M., Drees, J., Dris, M., Eigen, G., Ekeloef, T., Ellert, M., Elsing, M., Engel, J. P., Espirito-Santo, M. C., Fanourakis, G. K., Fassouliotis, D., Feindt, M., Fernandez, J., Ferrer, A., Ferrer-Ribas, E., Ferro, F., Firestone, A., Flagmeyer, U., Foeth, H., Fokitis, E., Fontanelli, F., Franek, B. J., Frodesen, A. G., Fruehwirth, R., Fulda-Quenzer, F., Fuster, J., Galloni, A., Gamba, D., Gamblin, S., Gandelman, M., Garcia, C., Gaspar, C., Gaspar, M., Gasparini, U., Gavillet, P., Gazis, E. N., Gele, D., Geralis, T., Ghodbane, N., Gil, I., Glege, F., Gokieli, R., Golob, B., Gomez-Ceballos, G., Goncalves, P., Gonzalez-Caballero, I., Gopal, G., Gorn, L., Guz, Yu, Gracco, V., Grahl, J., Graziani, E., Grosdidier, G., Grzelak, K., Guy, J., Haag, C., Hahn, F., Hahn, S., Haider, S., Hallgren, A., Hamacher, K., Hansen, J., Harris, F. J., Haug, S., Hauler, F., Hedberg, V., Heising, S., Hernandez, J. J., Herquet, P., Herr, H., Hertz, O., Higon, E., Holmgren, S. O., Holt, P. J., Hoorelbeke, S., Houlden, M., Hrubec, J., Hughes, G. J., Hultqvist, K., Jackson, J. N., Jacobsson, R., Jalocha, P., Jarlskog, C., Jarlskog, G., Jarry, P., Jean-Marie, B., Jeans, D., Johansson, E. K., Jonsson, P., Joram, C., Juillot, P., Jungermann, L., Kapusta, F., Karafasoulis, K., Katsanevas, S., Katsoufis, E. C., Keraenen, R., Kernel, G., Kersevan, B. P., Khokhlov, Yu, Khomenko, B. A., Khovanskii, N. N., Kiiskinen, A. P., King, B. J., Kinvig, A., Kjaer, N. J., Klapp, O., Kluit, P. M., Kokkinias, P., Kostyukhin, V., Kourkoumelis, C., Kuznetsov, O., Krammer, M., Kriznic, E., Krumshtein, Z., Kubinec, P., Kucharczyk, M., Kurowska, J., Lamsa, J. W., Laugier, J. P., Leder, G., Ledroit, F., Leinonen, L., Leisos, A., Leitner, R., Lenzen, G., Lepeltier, V., Lesiak, T., Lethuillier, M., Libby, J., Liebig, W., Liko, D., Lipniacka, A., Lippi, I., Loken, J. G., Lopes, J. H., Lopez, J. M., Lopez-Fernandez, R., Loukas, D., Lutz, P., Lyons, L., Macnaughton, J., Mahon, J. R., Maio, A., Malek, A., Maltezos, S., Malychev, V., Mandl, F., Marco, J., Marco, R., Marechal, B., Margoni, M., Marin, J. C., Mariotti, C., Markou, A., Martinez-Rivero, C., Marti, I. Garcia S., Masik, J., Mastroyiannopoulos, N., Matorras, F., Matteuzzi, C., Matthiae, G., Mazzucato, F., Mazzucato, M., Mccubbin, M. L., Mckay, R., Mcnulty, R., Mcpherson, G., Merle, E., Meroni, C., Meyer, W. T., Migliore, E., Mirabito, L., Mitaroff, W. A., Mjoernmark, U., Moa, T., Moch, M., Moenig, K., Monge, M. R., Montenegro, J., Moraes, D., Morettini, P., Morton, G., Mueller, U., Muenich, K., Mulders, M., Mundim, L. M., Murray, W. J., Muryn, B., Myatt, G., Myklebust, T., Nassiakou, M., Francesco Luigi Navarria, Nawrocki, K., Negri, P., Nemecek, S., Neufeld, N., Nicolaidou, R., Niezurawski, P., Nikolenko, M., Nomokonov, V., Nygren, A., Obraztsov, V. F., Olshevskii, A. G., Onofre, A., Orava, R., Oesterberg, K., Ouraou, A., Oyanguren, A., Paganoni, M., Paiano, S., Pain, R., Paiva, R., Palacios, J., Palka, H., Papadopoulou, T. D., Pape, L., Parkes, C., Parodi, F., Parzefall, U., Passeri, A., Passon, O., Peralta, L., Perepelitsa, V., Pernicka, M., Perrotta, A., Petridou, C., Petrolini, A., Phillips, H. T., Pierre, F., Pimenta, M., Piotto, E., Podobnik, T., Poireau, V., Pol, M. E., Polok, G., Poropat, P., Pozdnyakov, V., Privitera, P., Pukhaeva, N., Pullia, A., Radojicic, D., Ragazzi, S., Rahmani, H., Read, A. L., Rebecchi, P., Redaelli, N. G., Regler, M., Rehn, J., Reid, D., Reinhardt, R., Renton, P. B., Resvanis, L. K., Richard, F., Ridky, J., Rinaudo, G., Ripp-Baudot, I., Romero, A., Ronchese, P., Rosenberg, E. I., Rosinsky, P., Roudeau, P., Rovelli, T., Ruhlmann-Kleider, V., Ruiz, A., Saarikko, H., Sacquin, Y., Sadovskii, A., Sajot, G., Salmi, L., Salt, J., Sampsonidis, D., Sannino, M., Savoy-Navarro, A., Schwanda, C., Schwemling, P., Schwering, B., Schwickerath, U., Scuri, F., Sedykh, Yu, Segar, A. M., Sekulin, R. L., Sette, G., Shellard, R. C., Siebel, M., Simard, L., Simonetto, F., Sissakian, A. N., Smadja, G., Smirnov, N., Smirnova, O., Smith, G. R., Sokolov, A., Solovyanov, O., Sopczak, A., Sosnowski, R., Spassoff, Tz, Spiriti, E., Squarcia, S., Stanescu, C., Stanitzki, M., Stevenson, K., Stocchi, A., Strauss, J., Strub, R., Stugu, B., Szczekowski, M., Szeptycka, M., Tabarelli Fatis, T., Taffard, A., Tegenfeldt, F., Terranova, F., Timmermans, J., Tinti, N., Tkatchev, L. G., Tobin, M., Todorova, S., Tome, B., Tonazzo, A., Tortora, L., Tortosa, Pablo, Treille, D., Tristram, G., Trochimczuk, M., Troncon, C., Turluer, M. L., Tyapkin, I. A., Tyapkin, P., Tzamarias, S., Ullaland, O., Uvarov, V., Valenti, G., Vallazza, E., Velde, C., Dam, P., Den Boeck, W., Doninck, W. K., Eldik, J., Lysebetten, A., Remortel, N., Vulpen, I., Vegni, G., Ventura, L., Venus, W., Verbeure, F., Verdier, P., Verlato, M., Vertogradov, L. S., Verzi, V., Vilanova, D., Vitale, L., Vlasov, E., Vodopyanov, A., Voulgaris, G., Vrba, V., Wahlen, H., Washbrook, A. J., Weiser, C., Wicke, D., Wickens, J. H., Wilkinson, G. R., Winter, M., Witek, M., Wolf, G., Yi, J., Yushchenko, O., Zalewska, A., Zalewski, P., Zavrtanik, D., Zevgolatakos, E., Zimin, N. I., Zintchenko, A., Zoller, P., Zumerle, G., Zupan, M., Institut de Physique Nucléaire de Lyon (IPNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique Subatomique et de Cosmologie (LPSC), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Laboratoire de Physique Nucléaire et de Hautes Énergies (LPNHE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de l'Accélérateur Linéaire (LAL), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherches Subatomiques (IReS), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Physique Corpusculaire et Cosmologie - Collège de France (PCC), Collège de France (CdF)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre de Physique des Particules de Marseille (CPPM), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Aix Marseille Université (AMU), DELPHI, Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), Collège de France (CdF (institution))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Centre National de la Recherche Scientifique (CNRS), Abreu, P, Adam, W, Adye, T, Adzic, P, Albrecht, Z, Alderweireld, T, Alekseev, G, Alemany, R, Allmendinger, T, Allport, P, Almehed, S, Amaldi, U, Amapane, N, Amato, S, Anashkin, E, Anassontzis, E, Andersson, P, Andreazza, A, Andringa, S, Anjos, N, Antilogus, P, Apel, W, Arnoud, Y, Asman, B, Augustin, J, Augustinus, A, Baillon, P, Ballestrero, A, Bambade, P, Barao, F, Barbiellini, G, Barbier, R, Bardin, D, Barker, G, Baroncelli, A, Battaglia, M, Baubillier, M, Becks, K, Begalli, M, Behrmann, A, Bellunato, T, Belokopytov, Y, Belous, K, Benekos, N, Benvenuti, A, Berat, C, Berggren, M, Berntzon, L, Bertrand, D, Besancon, M, Besson, N, Bilenky, M, Bloch, D, Blom, H, Bol, J, Bonesini, M, Boonekamp, M, Booth, P, Borisov, G, Bosio, C, Botner, O, Boudinov, E, Bouquet, B, Bowcock, T, Boyko, I, Bozovic, I, Bozzo, M, Bracko, M, Branchini, P, Brenner, R, Brodet, E, Bruckman, P, Brunet, J, Bugge, L, Buschmann, P, Caccia, M, Calvi, M, Camporesi, T, Canale, V, Carena, F, Carroll, L, Caso, C, Cattai, A, Cavallo, F, Chapkin, M, Charpentier, P, Checehia, P, Chelkov, G, Chierici, R, Chliapnikov, P, Chochula, P, Chorowicz, V, Chudoba, J, Chung, S, Cieslik, K, Collins, P, Contri, R, Cosme, G, Cossutti, F, Costa, M, Crawley, H, Crennell, D, Croix, J, Maestro, J, Czellar, S, D'Hondt, J, Dalmau, J, Davenport, M, Da Silva, W, Della Ricca, G, Delpierre, P, Demaria, N, De Angelis, A, De Boer, W, De Clercq, C, De Lotto, B, De Min, A, De Paula, L, Dijkstra, H, Di Ciaccio, L, Doroba, K, Dracos, M, Drees, J, Dris, M, Eigen, G, Ekelof, T, Ellert, M, Elsing, M, Engel, J, Santo, M, Fanourakis, G, Fassouliotis, D, Feindt, T, Fernandez, J, Ferrer, A, Ferrer Ribas, E, Ferro, F, Firestone, A, Flagmeyer, U, Foeth, H, Fokitis, E, Fontanelli, F, Franek, B, Frodesen, A, Fruhwirth, R, Fulda Quenzer, F, Fuster, J, Gamba, D, Gamblin, S, Gandelman, M, Garcia, C, Gaspar, C, Gaspar, M, Gasparini, U, Gavillet, P, Gazis, E, Gele, D, Geralis, T, Ghodbane, N, Glege, F, Gokieli, R, Golob, B, Gomez Ceballos, G, Goncalves, P, Caballero, I, Gopal, G, Gorn, L, Gouz, Y, Gracco, V, Grahl, J, Graziani, E, Grosdidier, G, Grzelak, K, Guy, J, Haag, C, Hahn, F, Hahn, S, Haider, S, Hajduk, Z, Hallgren, A, Hamacher, K, Hamilton, K, Hansen, J, Harris, F, Haug, S, Hauler, F, Hedberg, V, Heising, S, Herquet, P, Herr, H, Hertz, O, Higon, E, Holmgren, S, Holt, P, Hoorelbeke, S, Houlden, M, Hrubec, J, Hughes, G, Hultqvist, K, Jackson, J, Jacobsson, R, Jarlskog, C, Jarlskog, G, Jarry, P, Jean Marie, B, Jeans, D, Johansson, E, Jonsson, P, Joram, C, Juillot, P, Jungermann, L, Kapusta, F, Karafasoulis, K, Katsanevas, S, Katsoufis, E, Keranen, R, Kernel, G, Kersevan, B, Khomenko, B, Khovanski, N, Kiiskinen, A, King, B, Kinvig, A, Kjaer, N, Klapp, O, Kluit, P, Kokkinias, P, Kostioukhine, V, Kourkoumelis, C, Kouznetsov, O, Krammer, M, Kriznic, E, Krumstein, Z, Kubinec, P, Kucewicz, W, Kucharczyk, M, Kurowska, J, Lamsa, J, Laugier, J, Leder, G, Ledroit, F, Leinonen, L, Leisos, A, Leitner, R, Lemonne, J, Lenzen, G, Lepeltier, V, Lethuillier, M, Libby, J, Liebig, W, Liko, D, Lipniacka, A, Lippi, I, Loken, J, Lopes, J, Lopez, J, Lopez Fernandez, R, Loukas, D, Lutz, P, Lyons, L, Macnaughton, J, Mahon, J, Maio, A, Malek, A, Maltezos, S, Malychev, V, Mandl, F, Marco, J, Marco, R, Marechal, B, Margoni, M, Marin, J, Mariotti, C, Markou, A, Martinez Rivero, C, Garcia, S, Masik, J, Mastroyiannopoulos, N, Matorras, F, Matteuzzi, C, Matthiae, G, Mazzucato, F, Mazzucato, M, Mc Cubbin, M, Mc Kay, R, Mc Nulty, R, Merle, E, Meroni, C, Meyer, W, Miagkov, A, Migliore, E, Mirabito, L, Mitaroff, W, Mjoernmark, U, Moa, T, Moch, M, Moenig, K, Monge, M, Montenegro, J, Moraes, D, Morettini, P, Morton, G, Mueller, U, Muenich, K, Mulders, M, Mundim, L, Murray, W, Myatt, G, Myklebust, T, Nassiakou, M, Navarria, F, Nawrocki, K, Negri, P, Nemecek, S, Neufeld, N, Nicolaidou, R, Niezurawski, P, Nikolenko, T, Nomokonov, V, Nygren, A, Oblakowska Mucha, A, Obraztsov, V, Olshevski, A, Onofre, A, Orava, R, Osterberg, K, Ouraou, A, Oyanguren, A, Paganoni, M, Paiano, S, Pain, R, Paiva, R, Palacios, J, Palka, H, Papadopoulou, T, Pape, L, Parkes, C, Parodi, F, Parzefall, U, Passeri, A, Passon, O, Peralta, L, Perepelitsa, V, Pernicka, M, Perrotta, A, Petridou, C, Petrolini, A, Phillips, H, Pierre, F, Pimenta, M, Piotto, E, Podobnik, T, Poireau, V, Pol, M, Polok, G, Poropat, P, Pozdniakov, V, Privitera, P, Pukhaeva, N, Pullia, A, Radojicic, D, Ragazzi, S, Rahmani, H, Ratoff, P, Read, A, Rebecchi, P, Redaelli, N, Regler, M, Rehn, J, Reid, D, Reinhardt, R, Renton, P, Resvanis, L, Richard, F, Ridky, J, Rinaudo, G, Ripp Baudot, I, Romero, A, Ronchese, P, Rosenberg, E, Rosinsky, P, Roudeau, P, Rovelli, T, Ruhlmann Kleider, V, Ruiz, A, Saarikko, H, Sacquin, Y, Sadovsky, A, Sajot, G, Salmi, L, Salt, J, Sampsonidis, D, Sannino, M, Savoy Navarro, A, Schwanda, C, Schwemling, P, Schwering, B, Schwickerath, U, Scuri, F, Seager, P, Sedykh, Y, Segar, A, Sekulin, R, Sette, G, Shellard, R, Siebel, M, Simard, L, Simonetto, F, Sisakian, A, Smadja, G, Smirnov, N, Smirnova, O, Smith, G, Sokolov, A, Solovianov, O, Sopczak, A, Sosnowski, R, Spassov, T, Spiriti, E, Squarcia, S, Stanescu, C, Stanitzki, M, Stocchi, A, Strauss, J, Strub, R, Stugu, D, Szczekowski, M, Szeptycka, M, Szumlak, T, TABARELLI DE FATIS, T, Taffard, A, Tegenfeldt, F, Terranova, F, Timmermans, J, Tinti, N, Tkatchev, L, Tobin, M, Todorova, S, Tome, B, Tortora, L, Tortosa, P, Treille, D, Tristram, G, Trochimczuk, M, Troncon, C, Turluer, M, Tyapkin, I, Tyapkin, P, Tzamarias, S, Ullaland, O, Uvarov, V, Valenti, G, Vallazza, E, Velde, C, Van Dam, P, Van den Boeck, W, Van Doninck, W, Van Eldik, J, Van Lysebetten, A, van Remortel, N, Van Vulpen, I, Vegni, G, Ventura, L, Venus, W, Verbeure, F, Verdier, P, Verlato, M, Vertogradov, L, Verzi, V, Vilanova, D, Vitale, L, Vlasov, E, Vodopyanov, A, Voulgaris, G, Vrba, V, Wahlen, H, Washbrook, A, Weiser, C, Wicke, D, Wickens, J, Wilkinson, G, Winter, M, Wolf, G, Yi, J, Yushchenko, O, Zalewska, A, Zalewski, P, Zavrtanik, D, Zevgolatakos, E, Zimin, N, Zintchenko, A, Zoller, P, Zumerle, G, Zupan, M, Delphi (IHEF, IoP, FNWI), Delphi, Collaboration, Abreu, P., Adam, W., Canale, Vincenzo, and DELPHI Collaboration

Subjects
Particle physics, Physics and Astronomy (miscellaneous), Meson, PAIR PRODUCTION, ENERGIES, FOS: Physical sciences, Branching (polymer chemistry), 01 natural sciences, CROSS-SECTIONS, High Energy Physics - Experiment, High Energy Physics - Experiment (hep-ex), BHABHA SCATTERING, MONTE-CARLO, RADIATIVE-CORRECTIONS, PARTICLE PHYSICS, DELPHI DETECTOR, CP-INVARIANCE, DECAY, 0103 physical sciences, [PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex], 010306 general physics, Engineering (miscellaneous), DELPHI, Physics, high energy collider, 010308 nuclear & particles physics, LEP, Charged particle, FIS/01 - FISICA SPERIMENTALE, High Energy Physics::Experiment, Física nuclear, Particle Physics - Experiment
Abstract

Using data collected in the DELPHI detector at LEP-1, measurements of the inclusive tau branching ratios for decay modes containing one, three, or five charged particles have been performed, giving the following results: B_1 = B(\tau^- -> (particle)^- \geq 0pi^0 \geq 0K^0 \nu_\tau(\bar{\nu})) = (85.316 +/- 0.093 +/- 0.049)%; B_3 = B(\tau^- -> 2h^-h^+ \geq 0pi^0 \geq 0K^0 \nu_\tau) = (14.569 +/- 0.093 +/- 0.048)%; B_5 = B(\tau^- -> 3h^-2h^+ \geq 0pi^0 \geq 0K^0 \nu_\tau) = (0.115 +/- 0.013 +/- 0.006)%, where h is either a charged pi or K meson. The first quoted uncertainties are statistical and the second systematic., Comment: 32 pages, 10 figures, Accepted by Eur. Phys. J. C

Published
2016
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44. Systemic Hydrocortisone To Prevent Bronchopulmonary Dysplasia in preterm infants (the SToP-BPD study): Statistical analysis plan

Author

Onland, W. (Wes), Merkus, M.P., Nuytemans, K., Jansen-Van Der Weide, M.C. (Marijke), Holman, R. (Rebecca), Kaam, A.H. (Anton) van, Cools, F. (Filip), Rademaker, K.J. (K.), Mohns, T. (Thilo), Blom, H. (Henry), Marechal, Y. (Yoann), Debeer, A. (Anne), Dijk, P.H. (Peter), Heijst, A.F.J. (Arno) van, Kramer, B.W. (Boris), Kroon, A.A. (André), van Straaten, H.L. (Henriette L.), Te Pas, A.B. (Arjan B.), Theyskens, C. (Claire), Zonnenberg, I. (Inge), Plaskie, K. (Katleen), Sijmons, M. (Marit), Rigo, V. (Vincent), Keymeulen, A. (Annelies), Onland, W. (Wes), Merkus, M.P., Nuytemans, K., Jansen-Van Der Weide, M.C. (Marijke), Holman, R. (Rebecca), Kaam, A.H. (Anton) van, Cools, F. (Filip), Rademaker, K.J. (K.), Mohns, T. (Thilo), Blom, H. (Henry), Marechal, Y. (Yoann), Debeer, A. (Anne), Dijk, P.H. (Peter), Heijst, A.F.J. (Arno) van, Kramer, B.W. (Boris), Kroon, A.A. (André), van Straaten, H.L. (Henriette L.), Te Pas, A.B. (Arjan B.), Theyskens, C. (Claire), Zonnenberg, I. (Inge), Plaskie, K. (Katleen), Sijmons, M. (Marit), Rigo, V. (Vincent), and Keymeulen, A. (Annelies)

Abstract

Background: Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth with short-term and long-term adverse consequences. Although the glucocorticoid dexamethasone has been proven to be beneficial for the prevention of BPD, there are concerns about an increased risk of adverse neurodevelopmental outcome. Hydrocortisone has been suggested as an alternative therapy. The aim of the Systemic Hydrocortisone To Prevent Bronchopulmonary Dysplasia in preterm infants (SToP-BPD) trial is to assess the efficacy and safety of postnatal hydrocortisone administration for the reduction of death or BPD in ventilator-dependent preterm infants. Methods/design: The SToP-BPD study is a multicentre, double-blind, placebo-controlled hydrocortisone trial in preterm infants at risk for BPD. After parental informed consent is obtained, ventilator-dependent infants are randomly allocated to hydrocortisone or placebo treatment during a 22-day period. The primary outcome measure is the composite outcome of death or BPD at 36 weeks postmenstrual age. Secondary outcomes are short-term effects on pulmonary condition and long-term neurodevelopmental sequelae assessed at 2 years corrected age. Complications of treatment, other serious adverse events and suspected unexpected serious adverse reactions are reported as safety outcomes. This pre-specified statistical analysis plan was written and submitted without knowledge of the unblinded data.

Published
2018
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45. Postdoctoral nurses leadership and professional development experiences in education: A qualitative study

Author

Blom, H., Hafsteinsdóttir, T. B. (Thesis Advisor), Blom, H., and Hafsteinsdóttir, T. B. (Thesis Advisor)

Abstract

Background Although nurses are the largest professional group in the healthcare sector, nurses holding academic leadership positions are lacking and the infrastructure in nursing science and research is limited and fragile. Performing leadership is important in shaping organizational culture and has a positive influence on various societal and patient outcomes. A large group of postdoctoral nurses works in education in Universities of Applied Sciences (UAS). Working in education requires new leadership skills. These nurses need support to create a new identity and socialization into the organization. Knowledge about leadership and professional development of postdoctoral nurses is limited. Research question How do postdoctoral nurses working in research and education at Dutch UAS experience their leadership and professional development? Methods This study had an explorative qualitative design and used a generic approach. Data were collected through 14 semi-structured face-to-face interviews and analyzed, using thematic analysis of Braun and Clarke. Results The following themes were identified: leadership development and professional development. Most postdoctoral nurses see themselves as leaders on their own area of expertise. The postdoctoral nurses aimed to improve healthcare in general. Due to a lack of postdoctoral positions, working below educational attainment and underpayment participants had switched jobs. Conclusion The Dutch infrastructure in nursing science and research is still limited and frail. The postdoctoral nurses experienced difficulties to develop a postdoctoral position, due to a lack of postdoctoral positions and education had always priority. Postdoctoral nurses are working in functions beneath their level and are underpaid. Combining education and research is challenging but also is beneficial to motivate the students for research. Recommendations The findings of this study may have various implications. It should be a priority to fo

Published
2018

46. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Author

Opstal, D, van Maarle, MC, Lichtenbelt, K, Weiss, MM, Schuring-Blom, H, Bhola, SL, Hoffer, MJV, van Amsterdam, K, Macville, MV, Kooper, AJA, Faas, BHW, Govaerts, LCP, Tan-Sindhunata, GM, den Hollander, N, Feenstra, I, Galjaard, Robert-Jan, Oepkes, D, Ghesquiere, S, Brouwer, Rutger, Beulen, L, Bollen, S, Elferink, MG, Straver, R, Henneman, L, Page-Christiaens, GC, Sistermans, EA, Opstal, D, van Maarle, MC, Lichtenbelt, K, Weiss, MM, Schuring-Blom, H, Bhola, SL, Hoffer, MJV, van Amsterdam, K, Macville, MV, Kooper, AJA, Faas, BHW, Govaerts, LCP, Tan-Sindhunata, GM, den Hollander, N, Feenstra, I, Galjaard, Robert-Jan, Oepkes, D, Ghesquiere, S, Brouwer, Rutger, Beulen, L, Bollen, S, Elferink, MG, Straver, R, Henneman, L, Page-Christiaens, GC, and Sistermans, EA

Published
2018

47. De oorlog (1940-1945)

Author

Romijn, P., Blom, H., Wertheim, D., Berg, H., Wallet, B., and ASH (FGw)

Published
2017

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