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  1. Article ; Online: Changes in patterns of peer relationships in primary education classroom networks through cooperative learning.

    Veldman, M A / Doolaard, S / Bosker, R J / Snijders, T A B

    School psychology (Washington, D.C.)

    2024  

    Abstract: We studied the impact of cooperative learning on positive peer relationships, that is, liking to work together, in classroom networks. Cooperative learning was implemented as part of the "Success for All" program. Longitudinal social network analysis was ...

    Abstract We studied the impact of cooperative learning on positive peer relationships, that is, liking to work together, in classroom networks. Cooperative learning was implemented as part of the "Success for All" program. Longitudinal social network analysis was used to investigate the development of structures and patterns of relationships in 16 intervention and 16 control classrooms, including a total of 791 students. Results showed significantly less reciprocation and transitivity in the dynamics of the intervention networks, while the number of nominations in the intervention classes was at least not smaller than in the control classes, indicating less tendency toward the formation of small clusters or cliques. We did not find that peer relationships became more diverse with regard to gender, socioeconomic status, or academic performance through the implementation of cooperative learning. In intervention classrooms, children tended to nominate their teammates with whom they work together in cooperative learning activities; however, also in control classrooms, children tended to nominate children with whom they are seated in the classroom. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
    Language English
    Publishing date 2024-02-15
    Publishing country United States
    Document type Journal Article
    ISSN 2578-4226
    ISSN (online) 2578-4226
    DOI 10.1037/spq0000617
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  2. Article ; Online: LCM-Seq for Retinal Cell Layer-Specific Responses During Optic Nerve Regeneration.

    Speer, Wesley / Veldman, Matthew B

    Methods in molecular biology (Clifton, N.J.)

    2023  Volume 2636, Page(s) 311–321

    Abstract: LCM-seq is a powerful tool for gene expression analysis from individual or groups of cells that can be spatially isolated. Within the visual system, retinal ganglion cells (RGCs), the cells that connect the eye to the brain through the optic nerve, ... ...

    Abstract LCM-seq is a powerful tool for gene expression analysis from individual or groups of cells that can be spatially isolated. Within the visual system, retinal ganglion cells (RGCs), the cells that connect the eye to the brain through the optic nerve, reside in the retinal ganglion cell layer of the retina. This well-defined location provides a unique opportunity to harvest RNA by laser capture microdissection (LCM) from a highly enriched cell population. Using this method, it is possible to explore transcriptome-wide changes in gene expression following optic nerve injury. In the zebrafish model, this method can be used to identify molecular events driving successful optic nerve regeneration in contrast to mammals that fail to regenerate axons in the central nervous system. Here we provide a method for LCM from the different retinal layers of zebrafish following optic nerve injury and during the process of optic nerve regeneration. Purified RNA from this protocol is sufficient for RNA-seq or other downstream analysis.
    MeSH term(s) Animals ; Zebrafish/genetics ; Laser Capture Microdissection ; Optic Nerve Injuries/genetics ; Retinal Ganglion Cells ; RNA ; Nerve Regeneration ; Mammals
    Chemical Substances RNA (63231-63-0)
    Language English
    Publishing date 2023-03-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1940-6029
    ISSN (online) 1940-6029
    DOI 10.1007/978-1-0716-3012-9_17
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  3. Article ; Online: Please get me out of here: The difficult decision making in fit-to-fly assessments for international fixed-wing air ambulance operations.

    Veldman, Alex / Diefenbach, Michael / Taymans, Laurent / Vadera, Bettina / Lelo, Joseph / Rouaud, Yann

    Travel medicine and infectious disease

    2023  Volume 54, Page(s) 102613

    Abstract: Introduction: With international travel for leisure and business almost back to pre-pandemic levels, demand for repatriation due to illness and injury abroad is increasing [1,2]. In any repatriation, there is considerable pressure on all involved to ... ...

    Abstract Introduction: With international travel for leisure and business almost back to pre-pandemic levels, demand for repatriation due to illness and injury abroad is increasing [1,2]. In any repatriation, there is considerable pressure on all involved to organize a rapid transport back home. Delay in such action may be perceived by the patient, relatives, and the public as an attempt by the underwriter to hold off on an expensive air ambulance mission [3-5].
    Methods: Review of the available literature and analysis of assistance and air ambulance Companies' infrastructure and processes to identify risk and benefit of executing or delaying aeromedical transport for international travellers.
    Key findings: While patients of almost any severity can be safely transported over great distances in modern air ambulance aircraft, immediate transport is not always in the patient's best interest. Each call for assistance requires a complex and dynamic risk-benefit analysis with multiple stakeholders involved to achieve an optimized outcome. Opportunities for risk mitigation within the assistance team include active case management with clearly assigned ownership, as well as medical and logistical experience with knowledge on local treatment opportunities and limitations. On the air ambulance side, modern equipment, experience, standards and procedures as well as accreditation can reduce risk.
    Conclusions: Each patient evaluation remains a highly individual risk-benefit assessment. Optimal outcomes require a clear understanding of responsibilities, flawless communication and significant expertise among the key decision-makers. Negative outcomes are mostly associated with insufficient information, communication, inadequate experience or a lack of ownership/assigned responsibility.
    MeSH term(s) Humans ; Air Ambulances ; Transportation of Patients/methods ; Aircraft ; Risk Assessment ; Decision Making
    Language English
    Publishing date 2023-06-17
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2170891-5
    ISSN 1873-0442 ; 1477-8939
    ISSN (online) 1873-0442
    ISSN 1477-8939
    DOI 10.1016/j.tmaid.2023.102613
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  4. Article ; Online: Outcomes and Complications of Limbal Stem Cell Allograft Transplantation: A Report by the American Academy of Ophthalmology.

    Li, Jennifer Y / Cortina, Maria S / Greiner, Mark A / Kuo, Anthony N / Miller, Darby D / Shtein, Roni M / Veldman, Peter B / Yin, Jia / Kim, Stephen J / Shen, Joanne F

    Ophthalmology

    2024  

    Abstract: Purpose: To review the published literature on the safety and outcomes of keratolimbal allograft (KLAL) transplantation and living-related conjunctival limbal allograft (lr-CLAL) transplantation for bilateral severe/total limbal stem cell deficiency ( ... ...

    Abstract Purpose: To review the published literature on the safety and outcomes of keratolimbal allograft (KLAL) transplantation and living-related conjunctival limbal allograft (lr-CLAL) transplantation for bilateral severe/total limbal stem cell deficiency (LSCD).
    Methods: Literature searches were last conducted in the PubMed database in February 2023 and were limited to the English language. They yielded 523 citations; 76 were reviewed in full text, and 21 met the inclusion criteria. Two studies were rated level II, and the remaining 19 studies were rated level III. There were no level I studies.
    Results: After KLAL surgery, best-corrected visual acuity (BCVA) improved in 42% to 92% of eyes at final follow-up (range, 12-95 months). The BCVA was unchanged in 17% to 39% of eyes and decreased in 8% to 29% of eyes. Two of 14 studies that evaluated the results of KLAL reported a notable decline in visual acuity over time postoperatively. Survival of KLAL was variable, ranging from 21% to 90% at last follow-up (range, 12-95 months) and decreased over time. For patients undergoing lr-CLAL surgery, BCVA improved in 31% to 100% of eyes at final follow-up (range, 16-49 months). Of the 9 studies evaluating lr-CLAL, 4 reported BCVA unchanged in 30% to 39% of patients, and 3 reported a decline in BCVA in 8% to 10% of patients. The survival rate of lr-CLAL ranged from 50% to 100% at final follow-up (range, 16-49 months). The most common complications were postoperative elevation of intraocular pressure, persistent epithelial defects, and acute allograft immune rejections.
    Conclusions: Given limited options for patients with bilateral LSCD, both KLAL and lr-CLAL are viable choices that may provide improvement of vision and ocular surface findings. The studies trend toward a lower rejection rate and graft failure with lr-CLAL. However, the level and duration of immunosuppression vary widely between the studies and may impact allograft rejections and long-term graft survival. Complications related to immunosuppression are minimal. Repeat surgery may be needed to maintain a viable ocular surface. Reasonable long-term success can be achieved with both KLAL and lr-CLAL with appropriate systemic immunosuppression.
    Financial disclosure(s): Proprietary or commercial disclosure may be found after the references.
    Language English
    Publishing date 2024-04-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2024.02.018
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  5. Article ; Online: Bihormonal fully closed-loop system for the treatment of type 1 diabetes: a real-world multicentre, prospective, single-arm trial in the Netherlands.

    van Bon, A C / Blauw, H / Jansen, T J P / Laverman, G D / Urgert, T / Geessink-Mennink, J / Mulder, A H / Out, M / Groote Veldman, R / Onvlee, A J / Schouwenberg, B J J W / Vermeulen, M A R / Diekman, M J M / Gerding, M N / van Wijk, J P H / Klaassen, M / Witkop, M / DeVries, J H

    The Lancet. Digital health

    2024  Volume 6, Issue 4, Page(s) e272–e280

    Abstract: Background: Management of insulin administration for intake of carbohydrates and physical activity can be burdensome for people with type 1 diabetes on hybrid closed-loop systems. Bihormonal fully closed-loop (FCL) systems could help reduce this burden. ...

    Abstract Background: Management of insulin administration for intake of carbohydrates and physical activity can be burdensome for people with type 1 diabetes on hybrid closed-loop systems. Bihormonal fully closed-loop (FCL) systems could help reduce this burden. In this trial, we assessed the long-term performance and safety of a bihormonal FCL system.
    Methods: The FCL system (Inreda AP; Inreda Diabetic, Goor, Netherlands) that uses two hormones (insulin and glucagon) was assessed in a 1 year, multicentre, prospective, single-arm intervention trial in adults with type 1 diabetes. Participants were recruited in eight outpatient clinics in the Netherlands. We included adults with type 1 diabetes aged 18-75 years who had been using flash glucose monitoring or continuous glucose monitors for at least 3 months. Study visits were integrated into standard care, usually every three months, to evaluate glycaemic control, adverse events, and person-reported outcomes. The primary endpoint was time in range (TIR; glucose concentration 3·9-10·0 mmol/L) after 1 year. The study is registered in the Dutch Trial Register, NL9578.
    Findings: Between June 1, 2021, and March 2, 2022, we screened 90 individuals and enrolled 82 participants; 78 were included in the analyses. 79 started the intervention and 71 were included in the 12 month analysis. Mean age was 47.7 (SD 12·4) years and 38 (49%) were female participants. The mean preintervention TIR of participants was 55·5% (SD 17·2). After 1 year of FCL treatment, mean TIR was 80·3% (SD 5·4) and median time below range was 1·36% (IQR 0·80-2·11). Questionnaire scores improved on Problem Areas in Diabetes (PAID) from 30·0 (IQR 18·8-41·3) preintervention to 10·0 (IQR 3·8-21·3; p<0·0001) at 12 months and on World Health Organization-Five Well-Being Index (WHO-5) from 60·0 (IQR 44·0-72·0) preintervention to 76·0 (IQR 60·0-80·0; p<0·0001) at 12 months. Five serious adverse events were reported (one cerebellar stroke, two severe hypoglycaemic, and two hyperglycaemic events).
    Interpretation: Real-world data obtained in this trial demonstrate that use of the bihormonal FCL system was associated with good glycaemic control in patients who completed 1 year of treatment, and could help relieve these individuals with type 1 diabetes from making treatment decisions and the burden of carbohydrate counting.
    Funding: Inreda Diabetic.
    MeSH term(s) Adult ; Female ; Humans ; Male ; Middle Aged ; Blood Glucose ; Blood Glucose Self-Monitoring ; Diabetes Mellitus, Type 1/drug therapy ; Hypoglycemia ; Insulin/therapeutic use ; Insulin Infusion Systems ; Netherlands ; Prospective Studies
    Chemical Substances Blood Glucose ; Insulin
    Language English
    Publishing date 2024-03-04
    Publishing country England
    Document type Clinical Trial ; Journal Article ; Multicenter Study
    ISSN 2589-7500
    ISSN (online) 2589-7500
    DOI 10.1016/S2589-7500(24)00002-5
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  6. Article ; Online: Severe Inflammatory Response in a Patient on Oral Miltefosine for Acanthamoeba Keratitis.

    Si, Zhuangjun / Veldman, Peter B / Reidy, James J / Farooq, Asim V

    Ocular immunology and inflammation

    2021  Volume 30, Issue 4, Page(s) 1027–1028

    MeSH term(s) Acanthamoeba ; Acanthamoeba Keratitis/diagnosis ; Acanthamoeba Keratitis/drug therapy ; Humans ; Phosphorylcholine/analogs & derivatives ; Phosphorylcholine/therapeutic use
    Chemical Substances Phosphorylcholine (107-73-3) ; miltefosine (53EY29W7EC)
    Language English
    Publishing date 2021-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 1193873-0
    ISSN 1744-5078 ; 0927-3948
    ISSN (online) 1744-5078
    ISSN 0927-3948
    DOI 10.1080/09273948.2020.1854315
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  7. Article ; Online: Usability and feasibility of E-nergEYEze: a blended vision-specific E-health based cognitive behavioral therapy and self-management intervention to reduce fatigue in adults with visual impairment.

    Veldman, M H J / van der Aa, H P A / Knoop, H / Bode, C / Hulshof, C T J / van der Ham, L / van Rens, G H M B / Heymans, M W / van Nispen, R M A

    BMC health services research

    2023  Volume 23, Issue 1, Page(s) 1271

    Abstract: Background: Over 50% of adults with visual impairment experience severe fatigue. Therefore, we developed a guided E-health intervention based on cognitive behavioral therapy and self-management to reduce fatigue in this population. This pilot study ... ...

    Abstract Background: Over 50% of adults with visual impairment experience severe fatigue. Therefore, we developed a guided E-health intervention based on cognitive behavioral therapy and self-management to reduce fatigue in this population. This pilot study evaluated the usability, feasibility, fidelity and potential effectiveness of E-nergEYEze.
    Methods: E-nergEYEze was developed by a design team and customized by conducting a pilot study using an iterative development strategy. The intervention was first tested in a usability study among adults with visual impairment (n = 5). Participants were asked to think-aloud while exploring the intervention features and a semi-structured interview was performed afterwards. Subsequently, the enhanced intervention was tested in a feasibility study. Adults with visual impairment and severe fatigue (n = 10) followed the intervention partially with guidance from a social worker and one-time computer trainer support. Fatigue severity (Checklist Individual Strength), fatigue impact (Modified Fatigue Impact Scale) and cognitive behavioral therapy skills (Competencies of Cognitive Therapy Scale-Self Report) were measured at baseline and at three months follow-up and analyzed with the Wilcoxon signed-rank test. The intervention was evaluated through evaluation forms.
    Results: The usability study resulted in adjustments to content and lay-out with regard to optically shortened text sentences, separate pages for information and assignments with one read-aloud audio and an additional descriptive explanation of page content. Digital challenges were overcome with mandatory computer training and e-platform modifications. The feasibility study showed a positive trend in reducing fatigue severity (Z -6.108; P < .001; SD 8.4), impact of fatigue (Z - 4.451; P < .001; SD 11.4) and cognitive behavioral therapy skills (Z -2.278; P = .023; SD 19.3). Participants gave useful feedback regarding accessibility, content and guidance, with an overall positive experience. The intervention was rated with a median score of 8 (range 7-10).
    Conclusion: We developed, evaluated and optimized E-nergEYEze by applying a user-centered and iterative approach. E-nergEYEze showed a promising trend to reduce fatigue severity and impact of fatigue and to increase cognitive behavioral therapy skills. The study methods were feasible and the fidelity of the intervention protocol was suitable. Performing a randomized controlled trial is warranted to give insight into whether E-nergEYEze is cost-effective in reducing severe fatigue in adults with visual impairment.
    Trial registration: International Clinical Trial Registry Platform: NL7764. Date registered: 28-05-2019.
    MeSH term(s) Humans ; Adult ; Self-Management ; Feasibility Studies ; Pilot Projects ; Cognitive Behavioral Therapy/methods ; Fatigue ; Telemedicine ; Vision Disorders
    Language English
    Publishing date 2023-11-16
    Publishing country England
    Document type Randomized Controlled Trial ; Journal Article
    ZDB-ID 2050434-2
    ISSN 1472-6963 ; 1472-6963
    ISSN (online) 1472-6963
    ISSN 1472-6963
    DOI 10.1186/s12913-023-10193-4
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  8. Article ; Online: Estimation of epidemiological cut-off values for eight antibiotics used for treatment of bovine mastitis caused by Streptococcus uberis and Streptococcus dysgalactiae subsp. dysgalactiae.

    Jensen, Vibeke Frøkjær / Damborg, Peter / Norström, Madelaine / Nonnemann, Bettina / Slettemeås, Jannice Schau / Smistad, Marit / Sølverød, Liv / Turnidge, John / Urdahl, Anne Margrete / Veldman, Kees / van Essen-Zandbergen, Alieda / Astrup, Lærke Boye

    Veterinary microbiology

    2024  Volume 290, Page(s) 109994

    Abstract: Interpretive criteria for antimicrobial susceptibility testing are lacking for most antimicrobials used for bovine streptococcal mastitis. The objectives of this study were to determine (tentative) epidemiological cut-off ((T)ECOFF) values for clinically ...

    Abstract Interpretive criteria for antimicrobial susceptibility testing are lacking for most antimicrobials used for bovine streptococcal mastitis. The objectives of this study were to determine (tentative) epidemiological cut-off ((T)ECOFF) values for clinically relevant antibiotics used for treatment of bovine mastitis, and to estimate the proportion of acquired resistance (non-wild-types) in Streptococcus dysgalactiae subsp. dysgalactiae and Streptococcus uberis. A total of 255 S. uberis and 231 S. dysgalactiae subsp. dysgalactiae isolates were obtained in Denmark and Norway from bovine mastitis. The isolates were tested for susceptibility to 10 antibiotics using broth microdilution. In accordance with the European Committee on Antimicrobial Susceptibility Testing (EUCAST) standard operating procedure, additional published MIC distributions were included for the estimation of ECOFFs for cloxacillin, cephapirin, lincomycin and tylosin, and TECOFFs for amoxicillin, benzylpenicillin, cephapirin and oxytetracycline. The proportion of non-wild-type (NWT) isolates for the beta-lactams was significantly higher in the Danish S. uberis (45-55%) compared to the Norwegian isolates (10-13%). For oxytetracycline, the proportion of NWT was significantly higher in the Danish isolates, both for S. uberis (28% vs. 3%) and S. dysgalactiae (22% vs. 0%). A bridging study testing in parallel MICs in a subset of isolates (n = 83) with the CLSI-specified and the EUCAST-specified broths showed excellent correlation between the MICs obtained with the two methods. The new ECOFFs and TECOFFs proposed in this study can be used for surveillance of antimicrobial resistance, and - for antimicrobials licensed for streptococcal bovine mastitis - as surrogate clinical breakpoints for predicting their clinical efficacy for this indication.
    MeSH term(s) Female ; Animals ; Cattle ; Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Mastitis, Bovine/drug therapy ; Cephapirin/therapeutic use ; Oxytetracycline ; Streptococcal Infections/drug therapy ; Streptococcal Infections/veterinary ; Anti-Infective Agents/therapeutic use ; Microbial Sensitivity Tests/veterinary ; Cattle Diseases ; Streptococcus
    Chemical Substances Anti-Bacterial Agents ; Cephapirin (89B59H32VN) ; Oxytetracycline (X20I9EN955) ; Anti-Infective Agents
    Language English
    Publishing date 2024-01-15
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 753154-0
    ISSN 1873-2542 ; 0378-1135
    ISSN (online) 1873-2542
    ISSN 0378-1135
    DOI 10.1016/j.vetmic.2024.109994
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  9. Article ; Online: Advanced Corneal Imaging in Keratoconus: A Report by the American Academy of Ophthalmology.

    Kuo, Anthony N / Cortina, Maria S / Greiner, Mark A / Li, Jennifer Y / Miller, Darby D / Shtein, Roni M / Veldman, Peter B / Yin, Jia / Kim, Stephen J / Shen, Joanne F

    Ophthalmology

    2023  Volume 131, Issue 1, Page(s) 107–121

    Abstract: Purpose: To review the published literature on the diagnostic capabilities of the newest generation of corneal imaging devices for the identification of keratoconus.: Methods: Corneal imaging devices studied included tomographic platforms ( ... ...

    Abstract Purpose: To review the published literature on the diagnostic capabilities of the newest generation of corneal imaging devices for the identification of keratoconus.
    Methods: Corneal imaging devices studied included tomographic platforms (Scheimpflug photography, OCT) and functional biomechanical devices (imaging an air impulse on the cornea). A literature search in the PubMed database for English language studies was last conducted in February 2023. The search yielded 469 citations, which were reviewed in abstract form. Of these, 147 were relevant to the assessment objectives and underwent full-text review. Forty-five articles met the criteria for inclusion and were assigned a level of evidence rating by the panel methodologist. Twenty-six articles were rated level II, and 19 articles were rated level III. There were no level I evidence studies of corneal imaging for the diagnosis of keratoconus found in the literature. To provide a common cross-study outcome measure, diagnostic sensitivity, specificity, and area under the receiver operating characteristic curve (AUC) were extracted. (A perfect diagnostic test that identifies all cases properly has an AUC of 1.0.) RESULTS: For the detection of keratoconus, sensitivities for all devices and parameters (e.g., anterior or posterior corneal curvature, corneal thickness) ranged from 65% to 100%. The majority of studies and parameters had sensitivities greater than 90%. The AUCs ranged from 0.82 to 1.00, with the majority greater than 0.90. Combined indices that integrated multiple parameters had an AUC in the mid-0.90 range. Keratoconus suspect detection performance was lower with AUCs ranging from 0.66 to 0.99, but most devices and parameters had sensitivities less than 90%.
    Conclusions: Modern corneal imaging devices provide improved characterization of the cornea and are accurate in detecting keratoconus with high AUCs ranging from 0.82 to 1.00. The detection of keratoconus suspects is less accurate with AUCs ranging from 0.66 to 0.99. Parameters based on single anatomic locations had a wide range of AUCs. Studies with combined indices using more data and parameters consistently reported high AUCs.
    Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
    MeSH term(s) Humans ; Cornea/diagnostic imaging ; Corneal Pachymetry/methods ; Corneal Topography/methods ; Keratoconus/diagnostic imaging ; Ophthalmology ; ROC Curve ; Tomography
    Language English
    Publishing date 2023-10-19
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2023.07.030
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  10. Article ; Online: Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

    Veldman, Abigail / Kiewiet, Mensiena B G / Heiner-Fokkema, Margaretha Rebecca / Nelen, Marcel R / Sinke, Richard J / Sikkema-Raddatz, Birgit / Voorhoeve, Els / Westra, Dineke / Dollé, Martijn E T / Schielen, Peter C J I / van Spronsen, Francjan J

    International journal of neonatal screening

    2022  Volume 8, Issue 1

    Abstract: Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). ...

    Abstract Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). Next-generation sequencing (NGS) is expected to have some advantages over the current approach, for example the ability to detect IMDs that meet all screening criteria but lack an identifiable biochemical footprint. We have now designed a technical study to explore the use of NGS techniques as a first-tier approach in NBS. Here, we describe the aim and set-up of the NGS-first for the NBS (NGSf4NBS) project, which will proceed in three steps. In Step 1, we will identify IMDs eligible for NGS-first testing, based on treatability. In Step 2, we will investigate the feasibility, limitations and comparability of different technical NGS approaches and analysis workflows for NBS, eventually aiming to develop a rapid NGS-based workflow. Finally, in Step 3, we will prepare for the incorporation of this workflow into the existing Dutch NBS program and propose a protocol for referral of a child after a positive NGS test result. The results of this study will be the basis for an additional analytical route within NBS that will be further studied for its applicability within the NBS program, e.g., regarding the ethical, legal, financial and social implications.
    Language English
    Publishing date 2022-02-24
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns8010017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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