12 results on '"Irene M. J. Mathijssen"'
Search Results
2. Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
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Linda Gaillard, Anne Goverde, Quincy C. C. van den Bosch, Fernanda S. Jehee, Erwin Brosens, Danielle Veenma, Frank Magielsen, Annelies de Klein, Irene M. J. Mathijssen, and Marieke F. van Dooren
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case report ,craniosynostosis ,congenital diaphragmatic hernia (CDH) ,BCL11B ,craniosynostosis syndromes ,Pediatrics ,RJ1-570 - Abstract
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.
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- 2021
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3. Using Perfusion Contrast for Spatial Normalization of ASL MRI Images in a Pediatric Craniosynostosis Population
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Catherine A. de Planque, Henk J. M. M. Mutsaerts, Vera C. Keil, Nicole S. Erler, Marjolein H. G. Dremmen, Irene M. J. Mathijssen, and Jan Petr
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ASL ,segmentation ,registration ,spatial normalization ,pediatric ,craniosynostosis ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Spatial normalization is an important step for group image processing and evaluation of mean brain perfusion in anatomical regions using arterial spin labeling (ASL) MRI and is typically performed via high-resolution structural brain scans. However, structural segmentation and/or spatial normalization to standard space is complicated when gray-white matter contrast in structural images is low due to ongoing myelination in newborns and infants. This problem is of particularly clinical relevance for imaging infants with inborn or acquired disorders that impair normal brain development. We investigated whether the ASL MRI perfusion contrast is a viable alternative for spatial normalization, using a pseudo-continuous ASL acquired using a 1.5 T MRI unit (GE Healthcare). Four approaches have been compared: (1) using the structural image contrast, or perfusion contrast with (2) rigid, (3) affine, and (4) nonlinear transformations – in 16 healthy controls [median age 0.83 years, inter-quartile range (IQR) ± 0.56] and 36 trigonocephaly patients (median age 0.50 years, IQR ± 0.30) – a non-syndromic type of craniosynostosis. Performance was compared quantitatively using the real-valued Tanimoto coefficient (TC), visually by three blinded readers, and eventually by the impact on regional cerebral blood flow (CBF) values. For both patients and controls, nonlinear registration using perfusion contrast showed the highest TC, at 17.51 (CI 6.66–49.38) times more likely to have a higher rating and 17.45–18.88 ml/100 g/min higher CBF compared with the standard normalization. Using perfusion-based contrast improved spatial normalization compared with the use of structural images, significantly affected the regional CBF, and may open up new possibilities for future large pediatric ASL brain studies.
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- 2021
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4. Testing for Implicit Gender Bias among Plastic Surgeons
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Alexandra Bucknor, MBBS, MSc, Ledibabari M. Ngaage, MA Cantab, MB, BChir, Kirsten J. Taylor, BSc (Hons), MBBS, Parisa Kamali, MD, PhD, Hinne A. Rakhorst, MD, PhD, Irene M. J. Mathijssen, MD, PhD, and Heather Furnas, MD
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Surgery ,RD1-811 - Abstract
Background:. The aim of this study was to examine for the presence of implicit bias within the field of plastic surgery using a gender-specific Implicit Association Test (IAT), specifically looking at gender and career stereotypes. Methods:. A Gender-Career/Family Implicit Association Test was developed and distributed to the international plastic surgery community. Mean scores were calculated. Respondents were provided with an automated summary interpretation of their results, categorizing association for a particular grouping of gender and career/family as a little or no, slight, moderate, or strong. Respondents were also asked a series of demographic and post-IAT questions. Results:. Ninety-five responses were available for analysis. Overall, respondents showed a moderate-to-strong association of male + career / female + family compared with the reverse, which was statistically significant. Nearly half of the respondents thought they might have an implicit gender-related bias; however, 50% post-test would not change their behavior based on results, while 9.5% would. Conclusions:. Plastics surgeons may have an unconscious tendency to associate men with a career and women with a family. Further steps must be taken to increase awareness and mitigate the impact of implicit gender bias.
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- 2021
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5. Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency
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Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, Mirjam van der Burg, Willem A. Dik, Pantipa Chatchatee, Anton W. Langerak, Sigrid M. A. Swagemakers, Jacqueline A. C. Goos, Irene M. J. Mathijssen, Virgil A. S. H. Dalm, Kanya Suphapeetiporn, Kim C. Heezen, Jose Drabwell, André G. Uitterlinden, Peter J. van der Spek, P. Martin van Hagen, and The South East Asia Primary Immunodeficiencies (SEAPID) Consortium
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primary immunodeficiencies ,microarray-based genotyping ,SNP microarray ,single nucleotide variants (SNV) calling ,copy number variants (CNV) calling ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Background: Genetic tests for primary immunodeficiency disorders (PIDs) are expensive, time-consuming, and not easily accessible in developing countries. Therefore, we studied the feasibility of a customized single nucleotide variant (SNV) microarray that we developed to detect disease-causing variants and copy number variation (CNV) in patients with PIDs for only 40 Euros.Methods: Probes were custom-designed to genotype 9,415 variants of 277 PID-related genes, and were added to the genome-wide Illumina Global Screening Array (GSA). Data analysis of GSA was performed using Illumina GenomeStudio 2.0, Biodiscovery Nexus 10.0, and R-3.4.4 software. Validation of genotype calling was performed by comparing the GSA with whole-genome sequencing (WGS) data of 56 non-PID controls. DNA samples of 95 clinically diagnosed PID patients, of which 60 patients (63%) had a genetically established diagnosis (by Next-Generation Sequencing (NGS) PID panels or Sanger sequencing), were analyzed to test the performance of the GSA. The additional SNVs detected by GSA were validated by Sanger sequencing.Results: Genotype calling of the customized array had an accuracy rate of 99.7%. The sensitivity for detecting rare PID variants was high (87%). The single sample replication in two runs was high (94.9%). The customized GSA was able to generate a genetic diagnosis in 37 out of 95 patients (39%). These 37 patients included 29 patients in whom the genetic variants were confirmed by conventional methods (26 patients by SNV and 3 by CNV analysis), while in 8 patients a new genetic diagnosis was established (6 patients by SNV and 2 patients suspected for leukemia by CNV analysis). Twenty-eight patients could not be detected due to the limited coverage of the custom probes. However, the diagnostic yield can potentially be increased when newly updated variants are added.Conclusion: Our robust customized GSA seems to be a promising first-line rapid screening tool for PIDs at an affordable price, which opens opportunities for low-cost genetic testing in developing countries. The technique is scalable, allows numerous new genetic variants to be added, and offers the potential for genetic testing not only in PIDs, but also in many other genetic diseases.
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- 2020
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6. Is Cortical Complexity Development Affected By Syndromic Craniosynostosis?
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Alexander T. Wilson, BS, Henri A. Vrooman, PhD, and Irene M. J. Mathijssen, MD, PhD
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Surgery ,RD1-811 - Published
- 2020
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7. Early and long-term skull growth after surgical correction for sagittal synostosis in relation to the occurrence of papilledema
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Stephanie D. C. van de Beeten, Melissa S. I. C. Kurniawan, Nathalie W. Kamst, Sjoukje E. Loudon, Irene M. J. Mathijssen, Marie-Lise C. van Veelen, Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC other, Pulmonary Medicine, Ophthalmology, and Neurosurgery
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Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,General Medicine - Abstract
Objective Stagnation of skull growth is correlated with papilledema in craniosynostosis. In this retrospective cohort study, we describe the postoperative skull growth after surgical correction for sagittal synostosis and its relation to the development of papilledema. Methods Patients with isolated sagittal synostosis at our center between 2005 and 2012 were included. Occipitofrontal circumference (OFC) was analyzed, at 3 time points (preoperative, 2 years postoperative, and last OFC measurement) and 3 phases (initial postoperative growth, long-term growth, and overall growth), and related to papilledema on fundoscopy. Results In total, 163 patients were included. The first time interval showed a decline in skull growth, with subsequent stabilization at long term. Papilledema occurred postoperatively in 10 patients. In these patients, the OFC at 2 years and at last follow-up (T3) were significantly smaller than in patients without papilledema. A larger OFC resulted in a decreased odds of developing papilledema at both postoperative time points (at T2 (OR = 0.40, p = 0.01) and at T3 (OR 0.29, p Conclusion A small OFC is correlated with the occurrence of papilledema. A decline in OFC within 2 years postoperatively is common in sagittal synostosis and is acceptable up to a value of 0.25SD. Patients with an OFC at last follow-up of less than 0.5SD are at risk for developing papilledema.
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- 2023
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8. Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls
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Catherine A. de Planque, Jan Petr, Linda Gaillard, Henk J. M. M. Mutsaerts, Marie-Lise C. van Veelen, Sarah L. Versnel, Marjolein H. G. Dremmen, Irene M. J. Mathijssen, Plastic and Reconstructive Surgery and Hand Surgery, Neurosurgery, and Radiology & Nuclear Medicine
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Male ,Craniosynostoses ,Cerebrovascular Circulation ,Brain ,Humans ,Infant ,Female ,Spin Labels ,Surgery ,Child ,Magnetic Resonance Imaging ,Frontal Lobe - Abstract
Background: Craniofacial surgery is the standard treatment for children with moderate to severe trigonocephaly. The added value of surgery to release restriction of the frontal lobes is unproven, however. In this study, the authors aim to address the hypothesis that the frontal lobe perfusion is not restricted in trigonocephaly patients by investigating cerebral blood flow. Methods: Between 2018 and 2020, trigonocephaly patients for whom a surgical correction was considered underwent magnetic resonance imaging brain studies with arterial spin labeling to measure cerebral perfusion. The mean value of cerebral blood flow in the frontal lobe was calculated for each subject and compared to that of healthy controls. Results: Magnetic resonance imaging scans of 36 trigonocephaly patients (median age, 0.5 years; interquartile range, 0.3; 11 female patients) were included and compared to those of 16 controls (median age, 0.83 years; interquartile range, 0.56; 10 female patients). The mean cerebral blood flow values in the frontal lobe of the trigonocephaly patients (73.0 ml/100 g/min; SE, 2.97 ml/100 g/min) were not significantly different in comparison to control values (70.5 ml/100 g/min; SE, 4.45 ml/100 g/min; p = 0.65). The superior, middle, and inferior gyri of the frontal lobe showed no significant differences either. Conclusions: The authors' findings suggest that the frontal lobes of trigonocephaly patients aged less than 18 months have a normal cerebral blood flow before surgery. In addition to the very low prevalence of papilledema or impaired skull growth previously reported, this finding further supports the authors' hypothesis that craniofacial surgery for trigonocephaly is rarely indicated for signs of raised intracranial pressure or restricted perfusion for patients younger than 18 months. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.
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- 2022
9. Reply
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Catherine A, de Planque, Jan, Petr, Linda, Gaillard, Henk J M M, Mutsaerts, Marie-Lise C, van Veelen, Sarah L, Versnel, Marjolein H G, Dremmen, Irene M J, Mathijssen, Plastic and Reconstructive Surgery and Hand Surgery, Neurosurgery, Radiology & Nuclear Medicine, and Radiology and nuclear medicine
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Surgery - Published
- 2023
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10. Accuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients with Syndromic Craniosynostosis
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Sumin, Yang, Robbin, de Goederen, Hansje, Bredero-Boelhouwer, Koen F M, Joosten, Irene M J, Mathijssen, Pediatrics, Pediatric Surgery, and Plastic and Reconstructive Surgery and Hand Surgery
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Sleep Apnea, Obstructive ,Craniosynostoses ,Otorhinolaryngology ,Child, Preschool ,Polysomnography ,Humans ,Surgery ,General Medicine ,Child ,Sleep ,Retrospective Studies - Abstract
Study Objectives: Obstructive sleep apnea (OSA) is seen in up to two-Third of the patients with syndromic craniosynostosis. Gold standard to diagnose OSA is the hospital-based polysomnography, although alternatively ambulatory home sleep apnea devices are available. Aim of this study was to assess (1) accuracy of ambulatory sleep studies, (2) clinical decision making following sleep studies, and (3) course of OSA during long-Term follow-up. Materials and Methods: A retrospective cohort study was performed in children with syndromic craniosynostosis, of whom polysomnographies and home sleep apnea device recordings were collected. Measurements of apnea-hypopnea index, respiratory event index, total sleep/recording time, heart rate, oxygen saturation, and oxygen desaturation index were derived from the sleep studies. Primary clinical care subsequent to the sleep studies was determined using electronic patient files. Results: In total, 123 patients were included, with 149 polysomnographies and 108 ambulatory studies. Performing an ambulatory study was associated with increased age at time of measurement (OR=1.1, 95% CI=1.02 to 1.17, P=0.01). No significant difference was found between the 2 types of sleep studies regarding sleep study parameters. Subsequent to sleep studies, patients with no-mild OSA had expectant care whereas patients with moderate-severe OSA underwent OSA-related treatment. OSA was most prevalent up to the age of 5 years, but also noticeable after the age of 10 years in patients with the Crouzon syndrome. Conclusions: Ambulatory sleep studies are reliable for diagnosing OSA in older children and can be used to determine clinical decision-making. Hence, we recommend implementing ambulatory sleep studies in a protocolized management.
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- 2022
11. Percutaneous aponeurotomy and lipofilling
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Roger K. Khouri, Jan Maerten Smit, Eufemiano Cardoso, Norbert Pallua, Laurent Lantieri, Irene M. J. Mathijssen, Gino Rigotti, and Plastic and Reconstructive Surgery and Hand Surgery
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Adult ,Male ,medicine.medical_specialty ,Percutaneous ,Adolescent ,medicine.medical_treatment ,Tissue Expansion ,Scars ,Fasciotomy ,Cicatrix ,Young Adult ,medicine ,Humans ,Aponeurosis ,Muscle contracture ,Aged ,Wound Healing ,business.industry ,Guided Tissue Regeneration ,Fascia ,Surgery ,medicine.anatomical_structure ,Adipose Tissue ,Wounds and Injuries ,Female ,medicine.symptom ,Splint (medicine) ,Wound healing ,business - Abstract
Background: The application of a new approach is presented, percutaneous aponeurotomy and lipofilling, which is a minimally invasive, incisionless alter native to traditional flap reconstructions. Methods: The restrictive subdermal cicatrix and/or endogenous aponeurosis is punctured, producing staggered nicks. Expansion of the restriction reconstructs the defect and creates a vascularized scaffold with micro-openings that are seeded with lipografts. Wide subcutaneous cuts that lead to macrocavities and subsequent graft failure are avoided. Postoperatively, a splint to hold open the neomatrix/graft construct in its expansive state is applied until the grafts mature. Thirty-one patients underwent one to three operations (average, two) for defects that normally require flap tissue transfer: wounds where primary closure was not possible (n = 9), contour defects of the trunk and breast requiring large-volume fat grafts (n = 8), burn contractures (n = 5), radiation scars (n = 6), and congenital constriction bands (n = 3). Results: The regenerated tissue was similar in texture and consistency to the surrounding tissues. Wider meshed areas had greater tissue gain (range, 20 to 30 percent). There were no significant wound-healing issues, scars, or donorsite morbidities. Advancement tension was relieved without flap undermining or decreased perfusion. Conclusions: Realizing that, whether scar or endogenous fascia, the subdermal aponeurosis limits tissue stretch and/or its three-dimensional expansion, a minimally invasive procedure that expands this cicatrix into a matrix ideally suited for fat micrografts was developed. Grafting this scaffold applies tissueengineering principles to generate the needed tissue and represents a regenerative alternative to reconstructive flap surgery. (Plast. Reconstr. Surg. 132: 1280, 2013.) CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.
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- 2013
12. Orbital aspects following monobloc advancement in syndromic craniosynostosis
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Maarten J. Koudstaal, Eppo B. Wolvius, Céline A. Bender, Wim C.J. Hop, Irene M. J. Mathijssen, Wouter Veneman, Jifke F. Veenland, Oral and Maxillofacial Surgery, Radiology & Nuclear Medicine, Medical Informatics, Plastic and Reconstructive Surgery and Hand Surgery, and Epidemiology
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Male ,genetic structures ,Cephalometry ,Osteogenesis, Distraction ,Syndromic craniosynostosis ,Eye ,Craniosynostosis ,Craniosynostoses ,Young Adult ,Imaging, Three-Dimensional ,Maxilla ,Medicine ,Humans ,Nasal Bone ,Child ,Zygoma ,Monobloc ,business.industry ,Craniofacial Dysostosis ,Infant ,Anatomy ,Syndrome ,Acrocephalosyndactylia ,Plastic Surgery Procedures ,medicine.disease ,eye diseases ,Osteotomy ,Ethmoid Bone ,medicine.anatomical_structure ,Otorhinolaryngology ,Treatment modality ,Frontal Bone ,Surgery ,Female ,sense organs ,Oral Surgery ,Malocclusion ,Anatomic Landmarks ,business ,Tomography, X-Ray Computed ,Orbit ,Craniotomy ,Orbit (anatomy) - Abstract
The monobloc advancement with distraction is a treatment modality for syndromic craniosynostosis, to correct exorbitism, upper airway compromise and malocclusion. In this report orbital volume and movements of (peri-)orbital structures and globes of seven patients following monobloc distraction are evaluated. In preoperative and postoperative CT-scans orbital volume was assessed and a 3D coordinate system with eleven landmarks was used to measure the movements of orbital structures and globes and to measure the change of exorbitism. Correlation between orbital volume, movements of the orbital structures and change in exorbitism was studied. The orbital volume increased by 49.9% (left) and 50.4% (right). The average anterior movement of the bone was 13.6 mm (left) and 13.9 mm (right). The mean anterior movement of the left globe was 5.8 mm and of the right globe 5.3 mm. The ratio of globe/bone movement was 0.4. Exorbitism decreased with 7.8 mm (left) and 8.1 mm (right). Differences between left and right for orbital volume, for movements and for the decrease in exorbitism were not significant. Volume enlargement and decrease in exorbitism were correlated (p ≤ 0.05). Following monobloc advancement orbital volume increases, (peri-)orbital structures and the globe move forward and exorbitism diminishes.
- Published
- 2013
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