162 results on '"De Vries MC"'
Search Results
2. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
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De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ, and Mancuso M
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in vitro studies ,in vivo studies ,safety ,drugs ,mitochondrial diseases ,mitochondrial toxicity - Abstract
Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situation of clinical need. The aim of this study was to develop consensus on safe medication use in patients with a primary mitochondrial disease. A panel of 16 experts in mitochondrial medicine, pharmacology, and basic science from six different countries was established. A modified Delphi technique was used to allow the panellists to consider draft recommendations anonymously in two Delphi rounds with predetermined levels of agreement. This process was supported by a review of the available literature and a consensus conference that included the panellists and representatives of patient advocacy groups. A high level of consensus was reached regarding the safety of all 46 reviewed drugs, with the knowledge that the risk of adverse events is influenced both by individual patient risk factors and choice of drug or drug class. This paper details the consensus guidelines of an expert panel and provides an important update of previously established guidelines in safe medication use in patients with primary mitochondrial disease. Specific drugs, drug groups, and clinical or genetic conditions are described separately as they require special attention. It is important to emphasise that consensus-based information is useful to provide guidance, but that decisions related to drug prescribing should always be tailored to the specific needs and risks of each individual patient. We aim to present what is current knowledge and plan to update this regularly both to include new drugs and to review those currently included.
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- 2020
3. Mogelijkheden tot uitbreiden van geneesmiddelenonderzoek bij kinderen
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de Vries, MC, Zwaan, C.M., and Pediatrics
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- 2009
4. Uitzichtloos en ondraaglijk lijden en actieve levensbeeindiging bij pasgeborenen
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Verhagen, AAE, van der Hoeven, MAHBM, Goudoever, Johan, de Vries, MC, Schouten- van Meeteren, AYN, Alberts, MJIJ, and Pediatrics
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- 2007
5. Hopeless and unbearable suffering and deliberate ending of life of newborn infants
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Verhagen, AAE, van der Hoeven, MAHBM, Goudoever, Johan, de Vries, MC, Schouten-van Meeteren, AY, Albers, MJIJ, Pediatrics, and Pediatric Surgery
- Published
- 2007
6. PP6.8 – 1911 A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
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Jonckheere, AI, primary, Renkema, GH, additional, Bras, M, additional, van den Heuvel, LP, additional, Hoischen, A, additional, Gilissen, C, additional, Huynen, MA, additional, de Vries, MC, additional, Smeitink, JAM, additional, and Rodenburg, RJT, additional
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- 2013
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7. Reproductive decision‐making in the context of mitochondrial DNA disorders: views and experiences of professionals
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Bredenoord, AL, primary, Krumeich, A, additional, De Vries, MC, additional, Dondorp, W, additional, and De Wert, G, additional
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- 2009
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8. Offshore megalopae of Callinectes sapidus: depth of collection, molt stage and response to estuarine cues
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Wolcott, DL, primary and De Vries, MC, additional
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- 1994
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9. Mitochondrial disease criteria: Diagnostic applications in children.
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Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, and Smeitink JA
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- 2006
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10. Voices of experience: what Dutch parents teach us about values and intuition in periviable decisions.
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de Boer A, De Proost L, de Vries M, Hogeveen M, de Vries MC, Verweij EJTJ, and Geurtzen R
- Abstract
Objective: When extremely premature birth at the limits of viability is imminent, shared decision-making with parents regarding the infant's treatment is widely recommended. Aligning decisions with parental values can be challenging. So, this study aims to get insight into (1) what values parents considered important in their decision, (2) whether their decision was based on intuition and/or rational analysis and (3) parental suggestions on how to help explore and articulate values during prenatal counselling., Design: A qualitative study was performed among Dutch parents who experienced (imminent) extremely premature birth. Diversity was aimed for through purposive sampling. Semistructured interviews were conducted until saturation was achieved. Transcripts were coded and themes were derived from the data., Results: Nineteen interviews were performed. Results show what parents considered important in their decision, such as the infants' future, family life and 'giving a chance'. Most parents made their decision more intuitively rather than rationally, for others both coexisted. Particularly fathers and parents who opted for palliative comfort care experienced the decision as rational. Parents would have liked to explore values, but found it challenging. They suggested strategies and conditions to help explore and articulate their values during counselling, such as a multidisciplinary approach., Conclusions: Various considerations and underlying values were found to be important. Parents recognise the influence of emotions and intuition in decision-making and struggle to articulate their values, emphasising the need for guidance. Healthcare providers should engage in open, personalised discussions to facilitate value exploration, enabling informed decisions aligned with parental values., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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11. [A man with swelling of the shoulder].
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De Vries MC and Zijlstra TR
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- Humans, Male, Middle Aged, Uric Acid analysis, Acromioclavicular Joint pathology, Gout diagnosis, Gout pathology
- Abstract
A 64-year-old male with a history of gout was seen with a swelling of het left acromioclavicular joint. Microscopic examination revealed monosodium urate crystals, confirming the diagnosis of tophaceous gout.
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- 2024
12. The Dutch Citizen's Understanding and Perception of the Actors Involved in the Netherlands' COVID-19 Pandemic Response: A Focus Group Study During the First Pandemic Wave.
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Kamga LSK, Voordouw ACG, De Vries MC, Belfroid E, Brabers AEM, De Jong JD, van Eck LC, Koopmans MPG, and Timen A
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- Humans, Netherlands, Female, Male, Adult, Middle Aged, Aged, SARS-CoV-2, Pandemics, Public Health, Public Opinion, COVID-19 psychology, COVID-19 epidemiology, Focus Groups
- Abstract
Introduction: The COVID-19 pandemic was a public health emergency (PHE) of unprecedented magnitude and impact. It provided the possibility to investigate the Dutch citizens' understanding and perception of the actors involved in the Dutch pandemic response as a PHE unfolded., Methods: Three focus groups (FGs) were held with 16 Dutch citizens in June 2020. Citizens were recruited using the Dutch Health Care Consumer Panel. During the FGs, participants were asked to fill in a table with actors they thought were involved in the management of the COVID-19 pandemic. They also received information on actors involved in Dutch outbreak responses. Then, the actors named and omitted by the participants were discussed., Results: An analysis of the FGs suggests that the Dutch citizens participating in the study were not fully aware of the scope of actors involved in the Dutch COVID-19 pandemic response. Some participants would have appreciated more information on the actors involved. This would help them have an informed opinion of the actors involved in the decision-making process, and accept non-pharmaceutical interventions implemented. Lastly, most participants recognised that they played a role in limiting the spread of the COVID-19 pandemic. Yet, very few spontaneously mentioned themselves as actors within the COVID-19 pandemic response., Conclusion: This study suggests that early in the COVID-19 pandemic, the Dutch citizens participating in this study's FG did not have a complete understanding of the scope of actors involved in the Dutch COVID-19 pandemic response, or the potential role of the citizen. Future research can build on these results to explore the citizen's perception of their role during PHEs of another origin, as well as other geographical and historical contexts., Patient or Public Contribution: The public participated in the focus groups and received a non-expert report summarising the outcomes of the focus groups., (© 2024 The Author(s). Health Expectations published by John Wiley & Sons Ltd.)
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- 2024
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13. Perspectives of ICU Patients on Deferred Consent in the Context of Post-ICU Quality of Life: A Substudy of a Randomized Clinical Trial.
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van der Wal LI, Grim CCA, Del Prado MR, van Westerloo DJ, Schultz MJ, Helmerhorst HJF, de Vries MC, and de Jonge E
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- Humans, Netherlands, Quality of Life, Intensive Care Units
- Abstract
Objectives: Deferred consent enables research to be conducted in the ICU when patients are unable to provide consent themselves, and there is insufficient time to obtain consent from surrogates before commencing (trial) treatment. The aim of this study was to evaluate how former ICU patients reflect on their participation in a study with deferred consent and examine whether their opinions are influenced by the quality of life (QoL) following hospital discharge., Design: Survey study by questionnaire., Setting: Eight ICUs in The Netherlands., Patients: Former ICU patients who participated in the ICONIC trial, a multicenter randomized clinical trial that evaluated oxygenation targets in mechanically ventilated ICU patients., Interventions: Participants enrolled in the ICONIC trial in one of the eight participating centers in The Netherlands received a questionnaire 6 months after randomization. The questionnaire included 12 close-ended questions on their opinion about the deferred consent procedure. QoL was measured using the EQ-5D-5L questionnaire. By calculating the EQ-5D index, patients were divided into four QoL quartiles, where Q1 reflects the lowest and Q4 is the highest., Measurements and Main Results: Of 362 participants who were contacted, 197 responded (54%). More than half of the respondents (59%) were unaware of their participation in the ICONIC study. In total 61% were content with the deferred consent procedure, 1% were not content, 25% neutral, 9% did not know, and 9% answered "other." Those with a higher QoL were more likely to be content ( p = 0.02). In all QoL groups, the legal representative was the most often preferred individual to provide consent., Conclusions: Former ICU patients who participated in the ICONIC study often did not remember their participation but were predominantly positive regarding the use of deferred consent. Those with a higher QoL were most likely to be content., Competing Interests: Dr. van der Wal’s institution received funding from the Dutch Research Council (NWO). Dr. Hemerhorst received support for article research from the NWO. Dr. Schultz is team leader of Medical Research at Hamilton Medical AG, Switzerland, since January 2022 and received grants from ZonMw, The Netherlands, for studies of ventilation. The Dutch Research Council funded the original trial, but was not involved in the study design, the collection of the data, the analysis or interpretation of the data, the writing of the report, or the decision to submit the article for publication. The remaining authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Society of Critical Care Medicine and Wolters Kluwer Health, Inc.)
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- 2024
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14. [How to provide meaningful primary care to patients with an addiction?]
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Hendriks AC and de Vries MC
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- Humans, Netherlands, Primary Health Care, Substance-Related Disorders therapy
- Abstract
Offering meaningful care to patients with an addiction is not always easy. This also holds true for general physicians. In this article we provide a legal and practical framework for general physicians on how to provide meaningful care for this group of patients. Various interventions are described. In case meaningful care does not seem to be an option, then the general physician has to draw his conclusions.
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- 2024
15. The Ethics of Ethics Conferences: Enhancing Further Transparency.
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de Vries MC and van der Graaf R
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- Humans, Bioethics
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- 2024
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16. Medical decision-making competence regarding puberty suppression: perceptions of transgender adolescents, their parents and clinicians.
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Vrouenraets LJJJ, de Vries ALC, Arnoldussen M, Hannema SE, Lindauer RJL, de Vries MC, and Hein IM
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- Child, Humans, Male, Adolescent, Female, Gender Identity, Puberty, Qualitative Research, Parents, Transgender Persons
- Abstract
According to international transgender care guidelines, transgender adolescents should have medical decision-making competence (MDC) to start puberty suppression (PS) and halt endogenous pubertal development. However, MDC is a debated concept in adolescent transgender care and little is known about the transgender adolescents', their parents', and clinicians' perspectives on this. Increasing our understanding of these perspectives can improve transgender adolescent care. A qualitative interview study with adolescents attending two Dutch gender identity clinics (eight transgender adolescents who proceeded to gender-affirming hormones after PS, and six adolescents who discontinued PS) and 12 of their parents, and focus groups with ten clinicians was conducted. From thematic analysis, three themes emerged regarding transgender adolescents' MDC to start PS: (1) challenges when assessing MDC, (2) aspects that are considered when assessing MDC, and (3) MDC's relevance. The four criteria one needs to fulfill to have MDC-understanding, appreciating, reasoning, communicating a choice-were all, to a greater or lesser extent, mentioned by most participants, just as MDC being relative to a specific decision and context. Interestingly, most adolescents, parents and clinicians find understanding and appreciating PS and its consequences important for MDC. Nevertheless, most state that the adolescents did not fully understand and appreciate PS and its consequences, but were nonetheless able to decide about PS. Parents' support of their child was considered essential in the decision-making process. Clinicians find MDC difficult to assess and put into practice in a uniform way. Dissemination of knowledge about MDC to start PS would help to adequately support adolescents, parents and clinicians in the decision-making process., (© 2022. The Author(s).)
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- 2023
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17. Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).
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Heunis TM, Chambers N, Vanclooster S, Bissell S, Byars AW, Capal JK, Cukier S, Davis PE, de Vries MC, De Waele L, Flinn J, Gardner-Lubbe S, Gipson T, Kingswood JC, Krueger DA, Kumm AJ, Sahin M, Schoeters E, Smith C, Srivastava S, Takei M, van Eeghen AM, Waltereit R, Jansen AC, and de Vries PJ
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- Humans, Self Report, Feasibility Studies, Consensus, Checklist, Tuberous Sclerosis complications
- Abstract
Background: Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) are often present but underidentified and undertreated in individuals with tuberous sclerosis complex (TSC). The clinician-completed TAND-Lifetime Checklist (TAND-L) was developed to address this identification and treatment gap. Stakeholder engagement identified the need for a TAND Checklist that can (1) be completed by caregivers or individuals with TSC and (2) quantify TAND difficulties. The aim of this study was to develop a self-report quantified TAND Checklist (TAND-SQ) and conduct feasibility and acceptability testing., Methods: This aim was addressed in three phases: (1) development of the TAND-SQ Checklist, (2) feasibility and acceptability testing of the "near-final" TAND-SQ Checklist, and (3) preparation of the final TAND-SQ Checklist. Participants included 23 technical experts from the TAND consortium in all phases and 58 lived experts (caregivers and individuals with TSC) in phase 2. All participants completed a TAND-SQ Checklist and a checklist feedback form., Results: Phase 1 additions to the TAND-SQ, when compared with the TAND-L, included four new items and a quantification rating. Phase 2 showed high ratings for the "near-final" TAND-SQ Checklist on comprehensiveness, clarity, ease of use, and overall acceptability. In phase 3, questions on strengths, strategies, and a TAND Cluster Profile were added., Conclusion: The TAND-SQ Checklist is presented here for use by individuals with TSC and their caregivers. The next steps as part of the TANDem project include internal and external validation of the checklist and linking of TAND Cluster Profiles generated from the checklist to evidence-informed consensus recommendations within a smartphone application., (Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.)
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- 2023
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18. Dynamics in cardiac surgery: trends in population characteristics and the performance of the EuroSCORE II over time.
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van Dijk WB, Leeuwenberg AM, Grobbee DE, Siregar S, Houterman S, Daeter EJ, de Vries MC, Groenwold RHH, and Schuit E
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- Humans, Cohort Studies, Heart, Elective Surgical Procedures, Calibration, Cardiac Surgical Procedures
- Abstract
Objectives: The aim of this study was to investigate the performance of the EuroSCORE II over time and dynamics in values of predictors included in the model., Methods: A cohort study was performed using data from the Netherlands Heart Registration. All cardiothoracic surgical procedures performed between 1 January 2013 and 31 December 2019 were included for analysis. Performance of the EuroSCORE II was assessed across 3-month intervals in terms of calibration and discrimination. For subgroups of major surgical procedures, performance of the EuroSCORE II was assessed across 12-month time intervals. Changes in values of individual EuroSCORE II predictors over time were assessed graphically., Results: A total of 103 404 cardiothoracic surgical procedures were included. Observed mortality risk ranged between 1.9% [95% confidence interval (CI) 1.6-2.4] and 3.6% (95% CI 2.6-4.4) across 3-month intervals, while the mean predicted mortality risk ranged between 3.4% (95% CI 3.3-3.6) and 4.2% (95% CI 3.9-4.6). The corresponding observed:expected ratios ranged from 0.50 (95% CI 0.46-0.61) to 0.95 (95% CI 0.74-1.16). Discriminative performance in terms of the c-statistic ranged between 0.82 (95% CI 0.78-0.89) and 0.89 (95% CI 0.87-0.93). The EuroSCORE II consistently overestimated mortality compared to observed mortality. This finding was consistent across all major cardiothoracic surgical procedures. Distributions of values of individual predictors varied broadly across predictors over time. Most notable trends were a decrease in elective surgery from 75% to 54% and a rise in patients with no or New York Heart Association I class heart failure from 27% to 33%., Conclusions: The EuroSCORE II shows good discriminative performance, but consistently overestimates mortality risks of all types of major cardiothoracic surgical procedures in the Netherlands., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery.)
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- 2023
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19. Epidemiology of Pathogens Listed as Potential Bioterrorism Agents, the Netherlands, 2009‒2019.
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Broertjes J, Franz E, Friesema IHM, Jansen HJ, Reubsaet FAG, Rutjes SA, Stijnis C, Voordouw BCG, de Vries MC, Notermans DW, and Grobusch MP
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- Biological Warfare Agents, Bioterrorism prevention & control, Netherlands epidemiology, Francisella tularensis, Bacillus anthracis
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We provide incidences (cases/10 million persons) in the Netherlands during 2009-2019 for pathogens listed as potential bioterrorism agents. We included pathogens from the highest categories of the European Medicines Agency or the US Centers for Disease Control and Prevention. Notifiable diseases and recently published data were used to calculate the average annual incidence. Coxiella burnetii had the highest incidence because of a Q fever epidemic during 2007-2010. Incidence then decreased to 10.8 cases/. Pathogens with an incidence >1 were Brucella spp. (2.5 cases), Francisella tularensis (1.3 cases), and Burkholderia pseudomallei (1.1 cases). Pathogens with an incidence <1 were hemorrhagic fever viruses (0.3 cases), Clostridium botulinum (0.2 cases), and Bacillus anthracis (0.1 cases). Variola major and Yersinia pestis were absent. The generally low incidences make it unlikely that ill-meaning persons can isolate these pathogens from natural sources in the Netherlands. However, the pathogens are stored in laboratories, underscoring the need for biosecurity measures.
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- 2023
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20. [What do parents know of patient rights of minors in the Netherlands?]
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Gallant CD, Toelen J, Sluiter-Post J, De Coninck D, Hendriks AC, Sombroek-van Doorm MP, van der Veek S, de Vries MC, and de Winter JP
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- Pregnancy, Child, Female, Humans, Netherlands, Parents, Patient Rights, Decision Making, Minors, Abortion, Induced
- Abstract
Introduction: In the Netherlands, medical decision-making without parental permission is allowed from the age of 16. The aim of this study was to examine parents' knowledge of this age-based framework to discover potential knowledge gaps that hinder the communication between doctors, parents, and their children., Methods: Survey-based research was conducted to examine parents' knowledge of the age-based framework that applies to minors in Dutch healthcare. The survey was based on 5 topics: medical diagnosis and treatment, medical advice, reproductive and sexual health services, abortion, and euthanasia. The survey was sent to 1,010 Dutch parents, aged 35-55 years, with at least one child. The data were analysed using SPSS. Percentages and means were calculated., Results: Parental knowledge of the age-based framework varied depending on the topic., Conclusion: This study provides insights into parents' current level of knowledge of the age-based framework that applies to minors in Dutch healthcare. This information is useful in the conversation between health care professional, parents, and their children.
- Published
- 2023
21. Capabilities and Stakeholders - Two Ways of Enriching the Ethical Debate on Artificial Womb Technology.
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Krom A, de Boer A, Geurtzen R, and de Vries MC
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- Female, Humans, Technology, Electronic Mail, Uterus
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- 2023
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22. Presence of Burkholderia pseudomallei in Soil, Nigeria, 2019.
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Savelkoel J, Oladele RO, Ojide CK, Peters RF, Notermans DW, Makinwa JO, de Vries MC, Sunter MAE, Matamoros S, Abdullahi N, Unigwe US, Akanmu AS, Wiersinga WJ, and Birnie E
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- Humans, Nigeria epidemiology, Soil Microbiology, Burkholderia pseudomallei genetics, Melioidosis epidemiology, Melioidosis microbiology
- Abstract
Melioidosis, caused by the soil-dwelling bacterium Burkholderia pseudomallei, is predicted to be endemic in Nigeria but is only occasionally reported. This report documents the systematic identification of the presence of B. pseudomallei and B. thailandensis in the soil across multiple states in Nigeria.
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- 2023
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23. Identification of Francisella tularensis Subspecies in a Clinical Setting Using MALDI-TOF MS: An In-House Francisella Library and Biomarkers.
- Author
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de Vries MC, Hoeve-Bakker BJA, van den Beld MJC, Hendriks ACA, Harpal ASD, Noomen RCEA, and Reubsaet FAG
- Abstract
Francisella tularensis is a zoonotic bacterium that is endemic in large parts of the world. It is absent in the standard library of the most applied matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) systems: the Vitek MS and the Bruker Biotyper system. The additional Bruker MALDI Biotyper Security library contains F. tularensis without subspecies differentiation. The virulence of F. tularensis differs between the subspecies. The F. tularensis subspecies (ssp.) tularensis is highly pathogenic, whereas the subspecies holarctica displays lower virulence and subspecies novicida and F. tularensis ssp. mediasiatica are hardly virulent. To differentiate the Francisellaceae and the F. tularensis -subspecies, an in-house Francisella library was built with the Bruker Biotyper system and validated together with the existing Bruker databases. In addition, specific biomarkers were defined based on the main spectra of the Francisella strains supplemented with in silico genome data. Our in-house Francisella library accurately differentiates the F. tularensis subspecies and the other Francisellaceae . The biomarkers correctly differentiate the various species within the genus Francisella and the F. tularensis subspecies. These MALDI-TOF MS strategies can successfully be applied in a clinical laboratory setting as a fast and specific method to identify F. tularensis to subspecies level.
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- 2023
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24. Applicability of European Society of Cardiology guidelines according to gross national income.
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van Dijk WB, Schuit E, van der Graaf R, Groenwold RHH, Laurijssen S, Casadei B, Roffi M, Abimbola S, de Vries MC, and Grobbee DE
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- Humans, Surveys and Questionnaires, Societies, Medical, Europe, Cardiology
- Abstract
Aims: To assess the feasibility to comply with the recommended actions of ESC guidelines on general cardiology areas in 102 countries and assess how compliance relates to the country's income level., Methods and Results: All recommendations from seven ESC guidelines on general cardiology areas were extracted and labelled on recommended actions. A survey was sent to all 102 ESC national and affiliated cardiac societies (NCSs). Respondents were asked to score recommended actions on their availability in clinical practice on a four-point Likert scale (fully available, mostly/often available, mostly/often unavailable, fully unavailable), and select the top three barriers perceived as being responsible for limiting their national availability. Applicability was assessed overall, per World Bank gross national income (GNI) level, and per guideline.A total of 875 guideline recommendations on general cardiology was extracted. Responses were received from 64 of 102 (62.7%) NCSs. On average, 71·6% [95% confidence interval (CI): 68.6-74.6] of the actions were fully available, 9.9% (95% CI: 8.7-11.1) mostly/often available, 6.7% (95% CI: 5.4-8.0) mostly/often unavailable, and 11·8% (95% CI: 9.5-14.1) fully unavailable. In low-income countries (LICs), substantially more actions were fully unavailable [29·4% (95% CI: 22.6-36.3)] compared with high-income countries [HICs, countries 2.4% (95% CI: 1.2-3.7); P < 0.05]. Nevertheless, a proportion of actions with the lowest availability scores were often fully or mostly unavailable independent of GNIs. Actions were most often not available due to lack of reimbursement and other financial barriers., Conclusion: Local implementation of ESC guidelines on general cardiology is high in HICs and low in LICs , being inversely correlated with country gross national incomes., Competing Interests: Conflicts of interest: D.E.G. is a member of the board of the ESC and chair of the Global Affairs Committee of the ESC. D.E.G. and M.R. are members of the practice guidelines committee of the ESC. Barbara Casadei is immediate past president of the ESC (2020–22). R.v.d.G. is a member of an independent ethical advisory committee to Sanofi. All other authors did not report any conflicts of interest., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2023
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25. Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
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Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, and Coene KLM
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- Humans, Retrospective Studies, Metabolomics, Biomarkers, Delayed Diagnosis, Metabolic Diseases
- Abstract
Purpose: For patients with inherited metabolic disorders (IMDs), any diagnostic delay should be avoided because early initiation of personalized treatment could prevent irreversible health damage. To improve diagnostic interpretation of genetic data, gene function tests can be valuable assets. For IMDs, variant-transcending functional tests are readily available through (un)targeted metabolomics assays. To support the application of metabolomics for this purpose, we developed a gene-based guide to select functional tests to either confirm or exclude an IMD diagnosis., Methods: Using information from a diagnostic IMD exome panel, Kyoto Encyclopedia of Genes and Genomes, and Inborn Errors of Metabolism Knowledgebase, we compiled a guide for metabolomics-based gene function tests. From our practical experience with this guide, we retrospectively selected illustrative cases for whom combined metabolomic/genomic testing improved diagnostic success and evaluated the effect hereof on clinical management., Results: The guide contains 2047 metabolism-associated genes for which a validated or putative variant-transcending gene function test is available. We present 16 patients for whom metabolomic testing either confirmed or ruled out the presence of a second pathogenic variant, validated or ruled out pathogenicity of variants of uncertain significance, or identified a diagnosis initially missed by genetic analysis., Conclusion: Metabolomics-based gene function tests provide additional value in the diagnostic trajectory of patients with suspected IMD by enhancing and accelerating diagnostic success., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
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- 2023
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26. Identifying the sectors involved in the European public health emergency preparedness and response: a systematic review.
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Kengne Kamga LS, Voordouw ACG, de Vries MC, Belfroid E, Koopmans M, and Timen A
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- Humans, Public Health methods, Civil Defense methods
- Abstract
Objectives: A systematic review was conducted with the aims of identifying sectors mentioned in the public health emergency preparedness and response (PHEPR) literature and mapping the involvement of those sectors in the seven PHEPR cycle domains., Setting: A detailed search strategy was conducted in Embase and Scopus, covering the period between 1 January 2005 and 1 January 2020., Methods: Published articles focusing on preparedness for and/or response to public health emergencies of multiple origins on the European continent were included. The frequency with which predetermined sectors were mentioned when describing collaboration during the preparedness and response cycle was determined., Results: The results show that description of the involvement of sectors in PHEPR in general and collaboration during PHEPR is predominantly confined to a limited number of sectors, namely 'Governmental institutions', 'Human health industry', 'Experts' and 'Civil Society'. Description is also limited to only three domains of the PHEPR cycle, namely 'Risk and crisis management', 'Pre-event preparations and governance' and 'Surveillance'., Conclusions: Optimal preparedness and response require predefined collaboration with a broader scope of partners than currently seems to be the case based on this literature review. We recommend considering these outcomes when planning multisectoral collaboration during preparedness and response, as well as the need to further operationalise the term 'multisectoral collaboration' during PHEPRs., Prospero Registration Number: PROSPERO with registration number 176 331., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2022
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27. Cognitive functioning and mental health in children with a primary mitochondrial disease.
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van de Loo KFE, Custers JAE, de Boer L, van Lieshout M, de Vries MC, Janssen MCH, and Verhaak CM
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- Child, Cognition, Humans, Intelligence, Mental Health, Mitochondrial Diseases, Quality of Life
- Abstract
Background: Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functioning and its relationship with disease parameters is essential to gather more insight in working mechanisms and provide recommendations for future research and patientcare. The aim of this study was to map the cognitive functioning and mental health in children with MD in relation to disease specific factors., Methods: Pediatric patients (< 18 year) with a genetically confirmed MD were included. Demographic and disease specific factors (International Paediatric Mitochondrial Disease Scale) were assessed, as well as cognitive functioning (intelligence, attention, working memory (WM)), and mental health (psychological functioning and quality of life). Individual patient data was described., Results: Thirty-three children with MD were included. Intellectual functioning ranged from a clinically low IQ (36% of the patients, N = 12/33) to an average or above average IQ (39%, N = 13/33). A higher verbal versus performance IQ was observed (36% N = 5/14), a lower processing speed (43%, N = 6/14), attentional problems (50%, N = 7/14), and verbal WM problems (11%, N = 2/18). Regarding mental health, general behavioral problems were reported (45%, N = 10/22), and on subscale level, attention problems (45%, N = 10), withdrawn/depressed (36%, N = 8/22) and anxious/depressed behavior (14%, N = 3/22). Furthermore, QoL impairments were reported (42%, N = 5/12). The specific intelligence profiles, cognitive impairments, behavioral problems and QoL impairments occurred in every intelligence subgroup. Children with an average or above general intellectual functioning had a generally lower and less variability in IPMDS scores, less frequently epilepsy, vision and hearing problems, and a relatively later age of onset, as compared to patients with a clinically low intellectual functioning., Conclusions: Despite considerable heterogeneity, overall results showed a high rate of impairments in both cognitive and mental health functioning. Also in children with an average or above level of intellectual functioning, specific cognitive impairments were observed. Children with a clinically low intellectual functioning more often had disease related impairments compared to children with a higher intellectual functioning. The importance of structural assessment of cognitive functioning and mental health is warranted, also in children with mild disease related symptoms., (© 2022. The Author(s).)
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- 2022
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28. When is it impractical to ask informed consent? A systematic review.
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Laurijssen SJ, van der Graaf R, van Dijk WB, Schuit E, Groenwold RH, Grobbee DE, and de Vries MC
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- Ethics Committees, Research, Ethics, Research, Humans, Research Personnel, Biomedical Research, Informed Consent
- Abstract
Background: Informed consent is one of the cornerstones of biomedical research with human subjects. Research ethics committees may allow for a modification or a waiver of consent when the research has social value, involves minimal risk, and if consent is impractical to obtain. While the conditions of social value and minimal risk have received ample attention in research ethics literature, the impractical condition remains unclear. There seem to be different interpretations of the meaning of impractical within academic literature. To address this lack of clarity, we performed a systematic review on the interpretation of impractical., Methods: First, we examined international research ethics guidelines on their usage and interpretation of impractical. Next, we used international ethical guidelines to identify synonyms of the term "impractical." Accordingly, PubMed, Embase, and Web of Science were searched for articles that included "informed consent" and "impractical" or one of its synonyms., Results: We found that there were only a few international ethics guidelines that described what could be considered impractical. Out of 2329 identified academic articles, 42 were included. Impractical was used to describe four different conditions: (1) obtaining informed consent becomes too demanding for researchers, (2) obtaining informed consent leads to invalid study outcomes, (3) obtaining informed consent harms the participant, and (4) obtaining informed consent is meaningless for the participant., Conclusion: There are conditions that render conventional informed consent truly impractical, such as untraceable participants or harm for participants. At the same time, researchers have a moral responsibility to design an infrastructure in which consent can be obtained, even if they face hardship in obtaining consent. In addition, researchers should seek to minimize harm inflicted upon participants when harm may occur as a result of the consent procedure. Invalidity of research due to consent issues should not be regarded as impractical but as a condition that limits the social value of research. Further research is essential for when a waiver of informed consent based on impractical is also reasonable.
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- 2022
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29. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
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van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, and van Spronsen FJ
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- Child, Humans, Male, Mental Health, Metabolic Networks and Pathways, Neuropsychological Tests, Phenylketonurias, Tyrosinemias genetics
- Abstract
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism., (© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
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- 2022
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30. How traditional informed consent impairs inclusivity in a learning healthcare system: lessons learned from the Utrecht Cardiovascular Cohort.
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Groenhof TKJ, Mostert M, Lea NC, Haitjema S, de Vries MC, van Dijk WB, Grobbee DE, Asselbergs FW, Bots ML, and van der Graaf R
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- Humans, Informed Consent, Cohort Studies, Learning Health System
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- 2022
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31. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
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Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, and Visser G
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- 3-Hydroxyacyl CoA Dehydrogenases, Humans, Infant, Newborn, Mitochondrial Myopathies, Mitochondrial Trifunctional Protein deficiency, Molecular Biology, Neonatal Screening, Nervous System Diseases, Netherlands, Retrospective Studies, Cardiomyopathies diagnosis, Cardiomyopathies genetics, Hypoglycemia, Lipid Metabolism, Inborn Errors diagnosis, Lipid Metabolism, Inborn Errors genetics, Lipid Metabolism, Inborn Errors metabolism, Rhabdomyolysis diagnosis, Rhabdomyolysis genetics
- Abstract
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine-based NBS for LCHADD not only identifies LCHADD, but also the other deficiencies of the mitochondrial trifunctional protein (MTP), a multi-enzyme complex involved in long-chain fatty acid β-oxidation. Besides LCHAD, MTP harbors two additional enzyme activities: long-chain enoyl-CoA hydratase (LCEH) and long-chain ketoacyl-CoA thiolase (LCKAT). Deficiency of one or more MTP activities causes generalized MTP deficiency (MTPD), LCHADD, LCEH deficiency (not yet reported), or LCKAT deficiency (LCKATD). To gain insight in the outcomes of MTP-deficient patients diagnosed after the introduction of NBS for LCHADD in the Netherlands, a retrospective evaluation of genetic, biochemical, and clinical characteristics of MTP-deficient patients, identified since 2007, was carried out. Thirteen patients were identified: seven with LCHADD, five with MTPD, and one with LCKATD. All LCHADD patients (one missed by NBS, clinical diagnosis) and one MTPD patient (clinical diagnosis) were alive. Four MTPD patients and one LCKATD patient developed cardiomyopathy and died within 1 month and 13 months of life, respectively. Surviving patients did not develop symptomatic hypoglycemia, but experienced reversible cardiomyopathy and rhabdomyolysis. Five LCHADD patients developed subclinical neuropathy and/or retinopathy. In conclusion, patient outcomes were highly variable, stressing the need for accurate classification of and discrimination between the MTP deficiencies to improve insight in the yield of NBS for LCHADD. NBS allowed the prevention of symptomatic hypoglycemia, but current treatment options failed to treat cardiomyopathy and prevent long-term complications. Moreover, milder patients, who might benefit from NBS, were missed due to normal acylcarnitine profiles., (© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
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- 2022
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32. [The Dutch Mandatory Mental Health Care Act allows more care for pregnant women under coercion].
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Hendriks AC, Sombroek-van Doorm MJP, and de Vries MC
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- Female, Humans, Netherlands, Pregnancy, Coercion, Mental Health Services legislation & jurisprudence, Pregnant Women psychology
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Women with mental health issues may wish to get pregnant. In some situations a pregnancy is contra-indicated or not be in the best interests of the future child. This article analyses the way treating physicians may assist these women and, if needed, treat these women by using somatic of psychiatric care. This on the basis of the Dutch Patients' Rights Act and mental health legislation. The recent Dutch Mandatory Health Care Act provides physicians more opportunities to act in comparison with the previous situation.
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- 2022
33. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
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Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, and van Karnebeek CDM
- Abstract
Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in HADHB. LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional protein (MTP) which catalyzes the last three steps in the long-chain fatty acid oxidation. Until now, only three cases of isolated LCKAT deficiency have been described. All patients developed a severe cardiomyopathy and died before the age of 7 weeks. Here, we describe a newborn with isolated LCKAT deficiency, presenting with neonatal-onset cardiomyopathy, rhabdomyolysis, hypoglycemia and lactic acidosis. Bi-allelic 185G > A (p.Arg62His) and c1292T > C (p.Phe431Ser) mutations were found in HADHB . Enzymatic analysis in both lymphocytes and cultured fibroblasts revealed LCKAT deficiency with a normal long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD, also part of MTP) enzyme activity. Clinically, the patient showed recurrent cardiomyopathy, which was monitored by speckle tracking echocardiography. Subsequent treatment with special low-fat formula, low in long chain triglycerides (LCT) and supplemented with medium chain triglycerides (MCT) and ketone body therapy in (sodium-D,L-3-hydroxybutyrate) was well tolerated and resulted in improved carnitine profiles and cardiac function. Resveratrol, a natural polyphenol that has been shown to increase fatty acid oxidation, was also considered as a potential treatment option but showed no in vitro benefits in the patient's fibroblasts. Even though our patient deceased at the age of 13 months, early diagnosis and prompt initiation of dietary management with addition of sodium-D,L-3-hydroxybutyrate may have contributed to improved cardiac function and a much longer survival when compared to the previously reported cases of isolated LCKAT-deficiency., Competing Interests: We have no conflicts of interest to report., (© 2022 The Authors.)
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- 2022
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34. Tularemia Transmission to Humans, the Netherlands, 2011-2021.
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Rijks JM, Tulen AD, Notermans DW, Reubsaet FAG, de Vries MC, Koene MGJ, Swaan CM, and Maas M
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- Animals, Humans, Netherlands epidemiology, Francisella tularensis, Tularemia epidemiology
- Abstract
We used national registry data on human cases of Francisella tularensis subspecies holarctica infection to assess transmission modes among all 26 autochthonous cases in the Netherlands since 2011. The results indicate predominance of terrestrial over aquatic animal transmission sources. We recommend targeting disease-risk communication toward hunters, recreationists, and outdoor professionals.
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- 2022
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35. Consent for Delivery Room Studies: What Can Be Learned from Perceptions of Parents.
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den Boer MC, Houtlosser M, Witlox RSGM, van Zanten HA, de Vries MC, and Te Pas AB
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- Female, Humans, Infant, Infant, Newborn, Infant, Premature, Parental Consent, Parents psychology, Pregnancy, Delivery Rooms, Infant, Newborn, Diseases
- Abstract
Background: Obtaining ethically valid consent to participate in delivery room (DR) studies from parents facing an imminent premature birth can be challenging. This study aims to provide insight into parental experiences with and perceptions of consent for DR studies., Methods: Semistructured interviews were conducted with parents of very and extreme preterm infants. Interviews were audio-recorded, transcribed, and analyzed using the qualitative data analysis software Atlas. ti V.8.4., Results: Twenty-five parents were interviewed. Despite being in an emotional and stressful situation, most parents considered being approached for DR studies as valuable. According to parents, this was mostly due to appropriate timing and communication, compassion, and investigators not being obtrusive. Interviewed parents generally decided to accept or decline study participation based on perceived risk. Parents differed widely in how risk of specific study interventions was perceived, but agreed on the fact that parental consent is needed for DR studies that involve risk. There was no consensus among parents on deferred consent for DR studies running at our NICU. However, parents considered deferred consent appropriate for observational studies. Furthermore, it became clear that parental misunderstanding of various aspects of DR studies, including aims, the concept of randomization, and risk associated with specific interventions, was common., Conclusions: Insight into parental perceptions of consent for DR studies allowed us to determine areas where the validity of parental consent can be improved. Further research on parental perspectives for consent for DR studies will allow us to establish consent procedures that are considered both valid and valuable., (© 2022 The Author(s). Published by S. Karger AG, Basel.)
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- 2022
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36. Assessing Medical Decision-Making Competence in Transgender Youth.
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Vrouenraets LJJJ, de Vries ALC, de Vries MC, van der Miesen AIR, and Hein IM
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- Adolescent, Adolescent Behavior, Age Factors, Child, Child Behavior, Cross-Sectional Studies, Female, Humans, Informed Consent By Minors statistics & numerical data, Intelligence, Judgment, Male, Netherlands, Reference Standards, Transgender Persons statistics & numerical data, Clinical Decision-Making methods, Informed Consent By Minors psychology, Mental Competency psychology, Puberty, Transgender Persons psychology
- Abstract
Background: According to international transgender care guidelines, an important prerequisite for puberty suppression (PS) is transgender adolescents' competence to give informed consent (IC). In society, there is doubt whether transgender adolescents are capable of this, which in some countries has even led to limited access to this intervention. Therefore, this study examined transgender adolescents' medical decision-making competence (MDC) to give IC for starting PS in a structured, replicable way. Additionally, potential associated variables on MDC, such as age, intelligence, sex, psychological functioning, were investigated., Methods: A cross-sectional semistructured interview study with 74 transgender adolescents (aged 10-18 years; 16 birth-assigned boys, 58 birth-assigned girls) within two Dutch specialized gender-identity clinics was performed. To assess MDC, judgements based on the reference standard (clinical assessment) and the MacArthur Competence Assessment Tool for Treatment (MacCAT-T), a validated semistructured interview, were used., Results: Of the transgender adolescents, 93.2% (reference standard judgements; 69 of 74) and 89.2% (MacCAT-T judgements; 66 of 74) were assessed competent to consent. Intermethod agreement was 87.8% (65 of 74). Interrater agreements of the reference standard and MacCAT-T-based judgements were 89.2% (198 of 222) and 86.5% (192 of 222), respectively. IQ and sex were both significantly related to MacCAT-T total score, whereas age, level of emotional and behavioral challenges, and diagnostic trajectories duration were not., Conclusions: By using the MacCAT-T and clinicians' assessments, 93.2% and 89.2%, respectively, of the transgender adolescents in this study were assessed competent to consent for starting PS., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2021 by the American Academy of Pediatrics.)
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- 2021
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37. Perceptions on the function of puberty suppression of transgender adolescents who continued or discontinued treatment, their parents, and clinicians.
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Vrouenraets LJJJ, de Vries MC, Hein IM, Arnoldussen M, Hannema SE, and de Vries ALC
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Purpose: Treatment of transgender adolescents with puberty suppression (PS) was developed to provide time for exploration before pursuing gender affirming medical treatment (GAMT) with irreversible effects. It may also result in a more satisfactory physical outcome for those who continue with GAMT. Despite being the current first choice treatment, little research has examined the function of PS from the perspectives of transgender adolescents, their parents, and clinicians. Insight into the perceived functions of PS will help to adequately support adolescents in their decision-making process and give them the care they need. Methods: Qualitative study using interviews with eight transgender adolescents who proceeded with GAMT after PS ("continuers"), six adolescents who discontinued PS ("discontinuers") and 12 parents, and focus groups with ten clinicians. Results: All informants considered inhibition of development of secondary sex characteristics an important function of PS. Most continuers saw PS as the first step of GAMT. Nevertheless, some were glad that the effects were reversible even if they didn't expect to change their minds. Some discontinuers did experience PS as an expanded diagnostic phase. One continuer used the time on PS to get used to living in the affirmed gender role, and several parents found the time helpful to adapt to their child's new gender role. PS provided clinicians more time for diagnostic assessment. Conclusions: Adolescents, parents and clinicians do not all report the same functions of PS. Although international guidelines emphasize providing time for exploration of gender identity as an important reason for PS, many adolescents nowadays seem to have clear ideas about their gender identity and treatment wishes, and experience PS as the first step of GAMT. For some discontinuers however, PS offered a valued period of exploration. Guidelines could be modified to provide more customized care, taking adolescents' and parents' ideas about the functions of PS into account., (© 2021 Leiden University Medical Center (LUMC). Published with license by Taylor & Francis Group, LLC.)
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- 2021
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38. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.
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Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, and van Hasselt PM
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- 2021
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39. Early diagnosis of coeliac disease in the Preventive Youth Health Care Centres in the Netherlands: study protocol of a case finding study (GLUTENSCREEN).
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Meijer-Boekel C, van den Akker ME, van Bodegom L, Escher J, van Geloven N, van Overveld F, Rings EHHM, Smit L, de Vries MC, and Mearin ML
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- Adolescent, Child, Cohort Studies, Delivery of Health Care, Early Diagnosis, Humans, Infant, Netherlands epidemiology, Prospective Studies, Celiac Disease diagnosis
- Abstract
Introduction: Coeliac disease (CD) occurs in 1% of the population, develops early in life and is severely underdiagnosed. Undiagnosed and untreated disease is associated with short-term and long-term complications. The current healthcare approach is unable to solve the underdiagnosis of CD and timely diagnosis and treatment is only achieved by active case finding. Aim: to perform a case finding project to detect CD children who visit the Youth Health Care Centres (YHCCs) in a well-described region in the Netherlands to evaluate whether it is feasible, cost-effective and well accepted by the population., Methods/analysis: Prospective intervention cohort study. Parents of all children aged 12 months and 4 years attending the YHCCs for a regular visit are asked whether their child has one or more CD-related symptoms from a standardised list. If so, they will be invited to participate in the case finding study. After informed consent, a point of care test (POCT) to assess CD-specific antibodies against tissue transglutaminase (TG2A) is performed onsite the YHCCs. If the POCT is positive, CD is highly suspected and the child will be referred to hospital for definitive diagnosis according to the Guideline Coeliac Disease of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition guideline., Main Outcomes: Incidence rate of new CD diagnoses in the study region in comparison to the one in the same age diagnosed by standard of care in the rest of the Netherlands.Feasibility and cost-effectiveness of active CD case finding at the YHCCs. All costs of active case finding, diagnostics and treatment of CD and the potential short-term and long-term consequences of the disease will be calculated for the setting with and without case finding.Ethical acceptability: by questionnaires on parental and healthcare professionals' satisfaction.A statistical analysis plan was prepared and is published on the GLUTENSCREEN website (Statistical-Analysis-Plan-11-5-2021_def.pdf (glutenscreen.nl) and added as annex 1)., Ethics and Dissemination: The Medical Ethics Committee Leiden approved this study. If we prove that case finding at the YHCC is feasible, cost-effective and well accepted by the population, implementation is recommended., Trial Registration Number: NL63291.058.17., Competing Interests: Competing interests: No, there are no competing interests., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2021
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40. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.
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Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR 2nd, Coenen MA, van Spronsen FJ, Williams M, de Vries MC, Westerlaan HE, Bok LA, van Karnebeek CDM, and Lunsing RJ
- Subjects
- Adolescent, Adult, Aldehyde Dehydrogenase, Child, Child, Preschool, Cross-Sectional Studies, Humans, Infant, Pyridoxine, Young Adult, Cognition, Disabled Persons, Epilepsy, Motor Disorders
- Abstract
Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort., Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed., Results: Ten patients (42%) showed unremarkable neurological examination, 11 (46%) complex MND, and 3 (12%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71%), fine motor disability in 11 (46%), posture/muscle tone deviancies in 11 (46%) and abnormal reflexes in 8 (33%). Six patients (25%) had an IQ > 85, 7 (29%) borderline, 7 (29%) mild, 3 (13%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age <3 years demonstrated beneficial effect on IQ results in 3 patients., Discussion: Complex MND and CP occurred more frequently in PDE-ALDH7A1 (46% and 12%) than in general population (7% and 0.2%, Peters et al., 2011, Schaefer et al., 2008). Twenty-five percent had a normal IQ. Although LRT shows potential to improve outcomes, data are heterogeneous in small patient numbers. More research with longer follow-up via the International PDE Registry (www.pdeonline.org) is needed., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)
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- 2021
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41. Reviewing recordings of neonatal resuscitation with parents.
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den Boer MC, Houtlosser M, Witlox RSGM, van der Stap R, de Vries MC, Lopriore E, and Te Pas AB
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- Adaptation, Psychological, Adult, Female, Gestational Age, Humans, Infant, Extremely Premature, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Young Adult, Infant, Premature psychology, Intensive Care Units, Neonatal, Parents psychology, Resuscitation psychology, Videotape Recording
- Abstract
Background: Recording of neonatal resuscitation, including video and respiratory parameters, was implemented for research and quality purposes at the neonatal intensive care unit (NICU) of the Leiden University Medical Center, and parents were offered to review the recording of their infant together with a neonatal care provider. We aimed to provide insight in parental experiences with reviewing the recording of the neonatal resuscitation of their premature infant., Methods: This study combined participant observations during parental review of recordings with retrospective qualitative interviews with parents., Results: Parental review of recordings of neonatal resuscitation was observed on 20 occasions, reviewing recordings of 31 children (12 singletons, 8 twins and 1 triplet), of whom 4 died during admission. Median (range) gestational age at birth was 27+5 (24+5-30+3) weeks. Subsequently, 25 parents (13 mothers and 12 fathers) were interviewed.Parents reported many positive experiences, with special emphasis on the value for getting hold of the start of their infant's life and coping with the trauma of neonatal resuscitation. Reviewing recordings of neonatal resuscitation frequently resulted in appreciation for the child, the father and the medical team. Timing and set-up of the review contributed to positive experiences. Parents considered screenshots/copies of the recording of the resuscitation of their infant as valuable keepsakes of their NICU story and reported that having the screenshots/video comforted them, especially when their child died during admission., Conclusion: Parents consider reviewing recordings of neonatal resuscitation as valuable. These positive parental experiences could allay concerns about sharing recordings of neonatal resuscitation with parents., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2021
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42. Fetoscopic myelomeningocoele closure: Is the scientific evidence enough to challenge the gold standard for prenatal surgery?
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Verweij EJ, de Vries MC, Oldekamp EJ, Eggink AJ, Oepkes D, Slaghekke F, Spoor JKH, Deprest JA, Miller JL, Baschat AA, and DeKoninck PLJ
- Subjects
- Adult, Female, Fetoscopy methods, Fetoscopy statistics & numerical data, Humans, Meningomyelocele epidemiology, Neurosurgical Procedures methods, Neurosurgical Procedures statistics & numerical data, Pregnancy, Spinal Dysraphism surgery, Fetoscopy standards, Meningomyelocele surgery, Neurosurgical Procedures standards
- Abstract
Since the completion of the Management of Myelomeningocoele Study, maternal-fetal surgery for spina bifida has become a valid option for expecting parents. More recently, multiple groups are exploring a minimally invasive approach and recent outcomes have addressed many of the initial concerns with this approach. Based on a previously published framework, we attempt to delineate the developmental stage of the surgical techniques. Furthermore, we discuss the barriers of performing randomized controlled trials comparing two surgical interventions and suggest that data collection through registries is an alternative method to gather high-grade evidence., (© 2021 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
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- 2021
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43. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
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Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, and Blom HJ
- Abstract
Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the lowest number of false-positives. In this case report, we describe four unrelated cases with a false-positive NBS result for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Three neonates presented with decreased but not deficient VLCAD enzyme activity and two of them carried a single heterozygous ACADVL c.1844G>A mutation. Initial biochemical investigations after positive NBS referral in these infants revealed acylcarnitine and organic acid profiles resembling those seen in multiple acyl-CoA dehydrogenase deficiency (MADD). Genetic analysis did not reveal any pathogenic mutations in the genes encoding the electron transfer flavoprotein (ETF alpha and beta subunits) nor in ETF dehydrogenase. Subsequent further diagnostics revealed decreased levels of riboflavin in the newborns and oral riboflavin administration normalized the MADD-like biochemical profiles. During pregnancy, the mothers followed a vegan, vegetarian or lactose-free diet which probably caused alimentary riboflavin deficiency in the neonates. This report demonstrates that a secondary (alimentary) maternal riboflavin deficiency in combination with reduced VLCAD activity in the newborns can result in an abnormal VLCADD/MADD acylcarnitine profile and can cause false-positive NBS. We hypothesize that maternal riboflavin deficiency contributed to the false-positive VLCADD neonatal screening results., Competing Interests: The authors declared no potential conflicts of interest., (© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
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- 2021
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44. High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.
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Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, and Williams M
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Amino Acids therapeutic use, Child, Child, Preschool, Dietary Proteins therapeutic use, Humans, Infant, Infant, Newborn, Middle Aged, Retrospective Studies, Treatment Outcome, Young Adult, Amino Acid Metabolism, Inborn Errors complications, Amino Acid Metabolism, Inborn Errors diet therapy, Amino Acid Metabolism, Inborn Errors epidemiology, Diet, Protein-Restricted, Propionic Acidemia complications, Propionic Acidemia diet therapy, Propionic Acidemia epidemiology
- Abstract
Background and Objective: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural protein is insufficient. It is unknown if dietary treatment can have an impact on outcome., Design: We performed a nationwide retrospective cohort study and evaluated both longitudinal dietary treatment and clinical course of Dutch MMA and PA patients. Protein prescription was compared to the recommended daily allowances (RDA); the safe level of protein intake as provided by the World Health Organization. The association of longitudinal dietary treatment with long-term outcome was evaluated., Results: The cohort included 76 patients with a median retrospective follow-up period of 15 years (min-max: 0-48 years) and a total of 1063 patient years on a protein restricted diet. Natural protein prescription exceeded the RDA in 37% (470/1287) of all prescriptions and due to AAM prescription, the total protein prescription exceeded RDA in 84% (1070/1277). Higher protein prescriptions were associated with adverse outcomes in severely affected patients. In PA early onset patients a higher natural protein prescription was associated with more frequent AMD. In MMA vitamin B12 unresponsive patients, both a higher total protein prescription and AAM protein prescription were associated with more mitochondrial complications. A higher AAM protein prescription was associated with an increased frequency of cognitive impairment in the entire., Conclusion: Protein intake in excess of recommendations is frequent and is associated with poor outcome., Competing Interests: Conflict of interest All authors state that they have no competing interests to declare. None of the authors accepted any reimbursements, fees or funds from any organization that may in any way gain or lose financially from the results of this study. The authors have not been employed by such an organization. The authors do not have any other competing interest., (Copyright © 2021 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.)
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- 2021
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45. Text-mining in electronic healthcare records can be used as efficient tool for screening and data collection in cardiovascular trials: a multicenter validation study.
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van Dijk WB, Fiolet ATL, Schuit E, Sammani A, Groenhof TKJ, van der Graaf R, de Vries MC, Alings M, Schaap J, Asselbergs FW, Grobbee DE, Groenwold RHH, and Mosterd A
- Subjects
- Data Collection statistics & numerical data, Humans, Netherlands, Reproducibility of Results, Cardiovascular Diseases diagnosis, Clinical Trials as Topic statistics & numerical data, Data Mining methods, Electronic Health Records statistics & numerical data
- Abstract
Objective: This study aimed to validate trial patient eligibility screening and baseline data collection using text-mining in electronic healthcare records (EHRs), comparing the results to those of an international trial., Study Design and Setting: In three medical centers with different EHR vendors, EHR-based text-mining was used to automatically screen patients for trial eligibility and extract baseline data on nineteen characteristics. First, the yield of screening with automated EHR text-mining search was compared with manual screening by research personnel. Second, the accuracy of extracted baseline data by EHR text mining was compared to manual data entry by research personnel., Results: Of the 92,466 patients visiting the out-patient cardiology departments, 568 (0.6%) were enrolled in the trial during its recruitment period using manual screening methods. Automated EHR data screening of all patients showed that the number of patients needed to screen could be reduced by 73,863 (79.9%). The remaining 18,603 (20.1%) contained 458 of the actual participants (82.4% of participants). In trial participants, automated EHR text-mining missed a median of 2.8% (Interquartile range [IQR] across all variables 0.4-8.5%) of all data points compared to manually collected data. The overall accuracy of automatically extracted data was 88.0% (IQR 84.7-92.8%)., Conclusion: Automatically extracting data from EHRs using text-mining can be used to identify trial participants and to collect baseline information., (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)
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- 2021
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46. Serum hepcidin concentrations in relation to iron status in children with type 1 diabetes.
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Vreugdenhil M, Akkermans MD, van Swelm RPL, Laarakkers CM, Houdijk ECAM, Bakker B, Clement-de Boers A, van der Kaay DCM, de Vries MC, Woltering MC, Mul D, van Goudoever JB, and Brus F
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- Adolescent, Cross-Sectional Studies, Female, Humans, Male, Anemia, Iron-Deficiency blood, Anti-Infective Agents blood, Diabetes Mellitus, Type 1 blood, Hepcidins blood, Iron blood
- Abstract
Chronic low-grade inflammation in type 1 diabetes (T1D) might increase hepcidin synthesis, possibly resulting in functional iron deficiency (FID). We hypothesized that in T1D children with FID, hepcidin concentrations are increased compared to those with normal iron status and those with absolute iron deficiency (AID). We evaluated hepcidin concentrations in T1D children in relation to iron status, and investigated whether hepcidin is useful in assessing FID. A cross-sectional study was conducted. FID was defined as elevated zinc protoporphyrin/heme ratio and/or red blood cell distribution width, and AID as low serum ferritin concentration. Post-hoc analyses with different definitions of FID were performed, using transferrin saturation and reticulocyte hemoglobin content. Serum hepcidin concentrations were measured using mass-spectrometry. The IRODIAB-study is registered at www.trialregister.nl (NTR4642). This study included 215 T1D children with a median age of 13.7 years (Q
1 -Q3 : 10.1-16.3). The median (Q1 -Q3 ) hepcidin concentration in patients with normal iron status was 1.8 nmol/l (0.9-3.3), in AID-patients, 0.4 nmol/l (0.4-0.4) and in FID-patients, 1.6 nmol/l (0.7-3.5). Hepcidin concentrations in FID-patients were significantly higher than in AID-patients (p < 0.001). Irrespective of FID-definition used, hepcidin concentrations did not differ between FID-patients and patients with normal iron status. This might be explained by the influence of various factors on hepcidin concentrations, and/or by differences in response of iron parameters over time. Single hepcidin measurements do not seem useful in assessing FID in T1D children. Multiple hepcidin measurements over time in future studies, however, might prove to be more useful in assessing FID in children with T1D.- Published
- 2021
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47. Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
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Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, and van der Burg M
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- Humans, Infant, Newborn, Netherlands epidemiology, Public Health Surveillance, Referral and Consultation, Severe Combined Immunodeficiency diagnosis, Severe Combined Immunodeficiency etiology, Stress, Psychological diagnosis, Stress, Psychological etiology, Surveys and Questionnaires, Health Plan Implementation statistics & numerical data, Neonatal Screening methods, Neonatal Screening psychology, Parents psychology, Patient Acceptance of Health Care, Severe Combined Immunodeficiency epidemiology
- Abstract
Purpose: While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs., Methods: To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID., Results: Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision., Conclusion: The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs' stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.
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- 2021
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48. Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
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Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, and De Vries MC
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- Humans, Linezolid, Acidosis, Lactic, Leigh Disease, Rhabdomyolysis
- Published
- 2021
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49. The Duty to Support Learning Health Systems: A Broad Rather than a Narrow Interpretation.
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van der Graaf R, van Dijk W, Laurijssen SJM, Schuit E, Grobbe DE, and de Vries MC
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- Ethics, Medical, Humans, SARS-CoV-2, COVID-19, Learning Health System
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- 2021
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50. Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
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Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E, de Vries MC, Roosendaal SD, Engelen M, and Bosch AM
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- Adolescent, Adult, Cerebellum diagnostic imaging, Cerebellum metabolism, Cerebellum pathology, Cerebrum diagnostic imaging, Cerebrum metabolism, Cerebrum pathology, Female, Galactosemias diagnostic imaging, Galactosemias genetics, Galactosemias pathology, Gray Matter diagnostic imaging, Gray Matter pathology, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Myelin Sheath genetics, Myelin Sheath metabolism, Nerve Degeneration diagnostic imaging, Nerve Degeneration metabolism, Nerve Degeneration pathology, Neuroimaging methods, UTP-Hexose-1-Phosphate Uridylyltransferase metabolism, White Matter diagnostic imaging, White Matter pathology, Young Adult, Galactosemias metabolism, Gray Matter metabolism, UTP-Hexose-1-Phosphate Uridylyltransferase genetics, White Matter metabolism
- Abstract
Background: Classical Galactosemia (CG) is an inherited disorder of galactose metabolism caused by a deficiency of the galactose-1-phosphate uridylyltransferase (GALT) enzyme resulting in neurocognitive complications. As in many Inborn Errors of Metabolism, the metabolic pathway of CG is well-defined, but the pathophysiology and high variability in clinical outcome are poorly understood. The aim of this study was to investigate structural changes of the brain of CG patients on MRI and their association with clinical outcome., Methods: In this prospective cohort study an MRI protocol was developed to evaluate gray matter (GM) and white matter (WM) volume of the cerebrum and cerebellum, WM hyperintensity volume, WM microstructure and myelin content with the use of conventional MRI techniques, diffusion tensor imaging (DTI) and quantitative T1 mapping. The association between several neuroimaging parameters and both neurological and intellectual outcome was investigated., Results: Twenty-one patients with CG (median age 22 years, range 8-47) and 24 controls (median age 30, range 16-52) were included. Compared to controls, the WM of CG patients was lower in volume and the microstructure of WM was impaired both in the whole brain and corticospinal tract (CST) and the lower R1 values of WM, GM and the CST were indicative of less myelin. The volume of WM lesions were comparable between patients and controls. The 9/16 patients with a poor neurological outcome (defined as the presence of a tremor and/or dystonia), demonstrated a lower WM volume, an impaired WM microstructure and lower R1 values of the WM indicative of less myelin content compared to 7/16 patients without movement disorders. In 15/21 patients with a poor intellectual outcome (defined as an IQ < 85) both GM and WM were affected with a lower cerebral and cerebellar WM and GM volume compared to 6/21 patients with an IQ ≥ 85. Both the severity of the tremor (as indicated by the Tremor Rating Scale) and IQ (as continuous measure) were associated with several neuroimaging parameters such as GM volume, WM volume, CSF volume, WM microstructure parameters and R1 values of GM and WM., Conclusion: In this explorative study performed in patients with Classical Galactosemia, not only WM but also GM pathology was found, with more severe brain abnormalities on MRI in patients with a poor neurological and intellectual outcome. The finding that structural changes of the brain were associated with the severity of long-term complications indicates that quantitative MRI techniques could be of use to explain neurological and cognitive dysfunction as part of the disease spectrum. Based on the clinical outcome of patients, the absence of widespread WM lesions and the finding that both GM and WM are affected, CG could be primarily a GM disease with secondary damage to the WM as a result of neuronal degeneration. To investigate this further the course of GM and WM should be evaluated in longitudinal research, which could also clarify if CG is a neurodegenerative disease., Competing Interests: Declaration of Competing Interest Mendy M. Welsink-Karssies, Anouk G.M. Schrantee, Mirian C.H. Janssen, Esmee Oussoren, Stefan D. Roosendaal, Marc Engelen and Maaike de Vries declare they have no conflict of interest. Matthan W.A. Caan is shareholder or Nico.lab Ltd. Carla E.M. Hollak is involved in premarketing studies with Sanofi, Protalix and Idorsia in the field of lysosomal storage disorders. She reports no conflicts of interest in relation to the current study. Annet M. Bosch was member of an advisory board of Biomarin., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
- Full Text
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