22 results on '"Grunewald O"'
Search Results
2. Senior-Løken syndrome: About two cases
- Author
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Grunewald, O., primary, Fajardy, I., additional, Drumare, I., additional, Defoort-Dhellemmes, S., additional, and Dhaenens, C., additional
- Published
- 2019
- Full Text
- View/download PDF
3. RURAL RESIDENTIAL WATER DEMAND: AN ECONOMETRIC AND SIMULATION ANALYSIS.
- Author
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Grunewald, O. C., Haan, C. T., Debertin, David L., and Carey, D. I.
- Abstract
BSTRACT: This study proposes that demand management through pricing policies can be used in conjunction with supply management to solve water supply problems. Economic principles are shown to apply to rural residential water use. A demand function for water was developed based on cross-sectional water use data collected in Kentucky. Price was found to be a significant determinant of the quantity of water demanded. A constant price elasticity of -0.92 was found. The demand function was used in a simulation analysis to determine reservoir capacity needed to supply water needs of a rural community. The simulation revealed that price can significantly affect required reservoir storage. [ABSTRACT FROM AUTHOR]
- Published
- 1976
- Full Text
- View/download PDF
4. The effect of physical characteristics on the price of stocker and feeder cattle
- Author
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Brazle, F., primary, Mintert, J., additional, Schroeder, Ted C., additional, and Grunewald, O., additional
- Published
- 1988
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5. Factors affecting prices of calves and yearlings in Kansas
- Author
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Lambert, C., primary, Corah, L., additional, and Grunewald, O., additional
- Published
- 1983
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6. The effect of physical characteristics on cow price differentials in Kansas
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Brazle, F., primary, Mintert, J., additional, Schroeder, Ted C., additional, and Grunewald, O., additional
- Published
- 1988
- Full Text
- View/download PDF
7. Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
- Author
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Vaché C, Faugère V, Baux D, Mansard L, Van Goethem C, Dhaenens CM, Grunewald O, Audo I, Zeitz C, Meunier I, Bocquet B, Cossée M, Bergougnoux A, Kalatzis V, and Roux AF
- Abstract
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations of the retinitis pigmentosa GTPase regulator gene (RPGR) are responsible for over 70% of XLRP cases. In the retina, the RPGR
ORF15 transcript includes a terminal exon, called ORF15, that is altered in the large majority of RPGR-XLRP cases. Unfortunately, due to its highly repetitive sequence, ORF15 represents a considerable challenge in terms of sequencing for molecular diagnostic laboratories. However, in a recent preliminary work Yahya et al. reported a long-read sequencing approach seeming promising. Here, the aim of the study was to validate and integrate this new sequencing strategy in a routine screening workflow. For that purpose, we performed a masked test on 52 genomic DNA samples from male and female individuals carrying 32 different pathogenic ORF15 variations including 20 located in the highly repetitive region of the exon. For the latter, we have obtained a detection rate of 80-85% in males and 60-80% in females after bioinformatic analyses. These numbers raised to 100% for both status after adding a complementary visual inspection of ORF15 long-reads. In accordance with these results, and considering the frequency of ORF15 pathogenic variations in XLRP, we suggest that a long-read screening of ORF15 should be systematically considered before any other sequencing approach in subjects with a diagnosis compatible with XLRP., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)- Published
- 2024
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8. Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy.
- Author
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Corradi Z, Dhaenens CM, Grunewald O, Kocabaş IS, Meunier I, Banfi S, Karali M, Cremers FPM, and Hitti-Malin RJ
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- Humans, Female, Male, Pedigree, Introns genetics, Exons genetics, Gene Duplication, DNA Copy Number Variations, ATP-Binding Cassette Transporters genetics, Retinal Diseases genetics
- Abstract
ABCA4 is the most frequently mutated gene leading to inherited retinal disease (IRD) with over 2200 pathogenic variants reported to date. Of these, ~1% are copy number variants (CNVs) involving the deletion or duplication of genomic regions, typically >50 nucleotides in length. An in-depth assessment of the current literature based on the public database LOVD, regarding the presence of known CNVs and structural variants in ABCA4 , and additional sequencing analysis of ABCA4 using single-molecule Molecular Inversion Probes (smMIPs) for 148 probands highlighted recurrent and novel CNVs associated with ABCA4 -associated retinopathies. An analysis of the coverage depth in the sequencing data led to the identification of eleven deletions (six novel and five recurrent), three duplications (one novel and two recurrent) and one complex CNV. Of particular interest was the identification of a complex defect, i.e., a 15.3 kb duplicated segment encompassing exon 31 through intron 41 that was inserted at the junction of a downstream 2.7 kb deletion encompassing intron 44 through intron 47. In addition, we identified a 7.0 kb tandem duplication of intron 1 in three cases. The identification of CNVs in ABCA4 can provide patients and their families with a genetic diagnosis whilst expanding our understanding of the complexity of diseases caused by ABCA4 variants.
- Published
- 2024
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- View/download PDF
9. Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
- Author
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Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, and Cremers FPM
- Subjects
- Humans, Female, Male, Sex Distribution, Retinal Diseases genetics, Retinal Diseases diagnosis, Alleles, Mutation, ATP-Binding Cassette Transporters genetics
- Abstract
Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy., Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles., Data Sources: Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing., Study Selection: Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023., Data Extraction and Synthesis: Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non-ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023., Main Outcomes and Measures: Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not., Results: Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47)., Conclusions and Relevance: This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care-seeking behavior, or by health care discrimination between women and men with ABCA4-AR.
- Published
- 2024
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10. Wagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexy.
- Author
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Borella Y, Dhaenens CM, Grunewald O, and Caputo G
- Abstract
Purpose: Wagner syndrome is an autosomal genetic vitreoretinopathy characterized by chorioretinal atrophy, avascular vitreous veils, reduced visual acuity and early retinal detachment in advanced cases. Management of Wagner syndrome usually results in observation then management of occurring complications., Observations: We report the case of a 9-year-old girl presenting with supposed Wagner syndrome that we managed with prophylactic encircling band and retinopexy in both eyes. The genetic testing revealed a new variant in the intron 7 non canonical splice acceptor site, c.4004-12_4004-6delins17, that was also present in her father., Conclusions and Importance: The VCAN variant found in this proband and her father has not been described yet but shows high predictions of pathogenicity. The previous reported variants in VCAN intron 7 and the associated phenotype for both cases allowed us to attribute this variant to Wagner syndrome. In Wagner syndrome, management is usually curative. After prophylactic surgery in our case, the zones of retinal delamination were well supported by the scleral buckle, releasing the vitreoretinal tractions, and the additional laser focalized on the temporal zones of dehiscence secured the retina. An encircling band may be a good way to prevent RD in patients with Wagner syndrome at risk., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier Inc.)
- Published
- 2024
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11. Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.
- Author
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Fages V, Bourre F, Larrue R, Wenzel A, Gibier JB, Bonte F, Dhaenens CM, Kidd K, Kmoch S, Bleyer A, Glowacki F, and Grunewald O
- Abstract
Introduction: Patients with autosomal dominant tubulointerstitial kidney disease (ADTKD) usually present with nonspecific progressive chronic kidney disease (CKD) with mild to negative proteinuria and a family history. ADTKD- MUC1 leads to the formation of a frameshift protein that accumulates in the cytoplasm, leading to tubulointerstitial damage. ADTKD- MUC1 prevalence remains unclear because MUC1 variants are not routinely detected by standard next-generation sequencing (NGS) techniques., Methods: We developed a bioinformatic counting script that can detect specific genetic sequences and count the number of occurrences. We used DNA samples from 27 patients for validation, 11 of them were patients from the Lille University Hospital in France and 16 were from the Wake Forest Hospital, NC. All patients from Lille were tested with an NGS gene panel with our script and all patients from Wake Forest Hospital were tested with the snapshot reference technique. Between January 2018 and February 2023, we collected data on all patients diagnosed with MUC1 variants with this script., Results: A total of 27 samples were tested anonymously by the BROAD Institute reference technique for confirmation and we were able to get a 100% concordance for MUC1 diagnosis. Clinico-biologic characteristics in our cohort were similar to those previously described in ADTKD- MUC1., Conclusion: We describe a new simple and cost-effective method for molecular testing of ADTKD- MUC1. Genetic analyses in our cohort suggest that MUC1 might be the first cause of ADTKD. Increasing the availability of MUC1 diagnosis tools will contribute to a better understanding of the disease and to the development of specific treatments., (© 2024 International Society of Nephrology. Published by Elsevier Inc.)
- Published
- 2024
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12. ROSAH syndrome mimicking chronic uveitis.
- Author
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Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, and Meunier I
- Subjects
- Humans, Splenomegaly, Follow-Up Studies, Pedigree, Phenotype, Syndrome, Edema, DNA Mutational Analysis, Hypohidrosis, Optic Nerve Diseases, Uveitis
- Abstract
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene. Observational longitudinal follow-up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole-Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy., (© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
- Published
- 2023
- Full Text
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13. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
- Author
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Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, and Dhaenens CM
- Subjects
- Exons genetics, Homozygote, Humans, Membrane Transport Proteins genetics, Mutation, Neuronal Ceroid-Lipofuscinoses genetics, Retinal Dystrophies genetics
- Abstract
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel. Among them were one deep intronic variant c.998+1669A>G, one large deletion encompassing exon 9 and 10, and a silent change c.750A>G. Transcript analysis performed on patients’ lymphoblastoid cell lines revealed the creation of a donor splice site by c.998+1669A>G, resulting in a 140 bp pseudoexon insertion in intron 10. Variant c.750A>G produced exon 8 skipping. In silico and in cellulo studies of these variants allowed us to assign the pathogenic effect, and showed that the combination of at least one severe variant with a moderate one leads to isolated retinal dystrophy, whereas the combination in trans of two severe variants is responsible for early onset severe retinal dystrophy in the context of late-infantile neuronal ceroid lipofuscinosis.
- Published
- 2022
- Full Text
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14. CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
- Author
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Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, and Meunier I
- Subjects
- Adolescent, Age of Onset, Alternative Splicing, Child, Child, Preschool, Ependymoglial Cells metabolism, Eye Proteins chemistry, Female, Genetic Association Studies, Humans, Infant, Macular Degeneration genetics, Macular Degeneration metabolism, Male, Membrane Proteins chemistry, Models, Molecular, Mutation, Missense, Nerve Tissue Proteins chemistry, Point Mutation, Retinal Dystrophies genetics, Retinal Dystrophies metabolism, Retinitis Pigmentosa genetics, Retinitis Pigmentosa metabolism, Retrospective Studies, Sequence Deletion, Young Adult, Ependymoglial Cells pathology, Eye Proteins genetics, Eye Proteins metabolism, Macular Degeneration pathology, Membrane Proteins genetics, Membrane Proteins metabolism, Mutation, Nerve Tissue Proteins genetics, Nerve Tissue Proteins metabolism, Retinal Dystrophies pathology, Retinitis Pigmentosa pathology
- Abstract
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genotype correlation of 50 patients with regards to the recently identified CRB1 isoforms: a canonical long isoform A localized in Müller cells (12 exons) and a short isoform B predominant in photoreceptors (7 exons). Twenty-eight patients with early onset retinal dystrophy (EORD) consistently had a severe Müller impairment, with variable impact on the photoreceptors, regardless of isoform B expression. Among them, two patients expressing wild type isoform B carried one variant in exon 12, which specifically damaged intracellular protein interactions in Müller cells. Thirteen retinitis pigmentosa patients had mainly missense variants in laminin G-like domains and expressed at least 50% of isoform A. Eight patients with the c.498_506del variant had macular dystrophy. In one family homozygous for the c.1562C>T variant, the brother had EORD and the sister macular dystrophy. In contrast with the mouse model, these data highlight the key role of Müller cells in the severity of CRB1 -related dystrophies in humans, which should be taken into consideration for future clinical trials.
- Published
- 2021
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15. ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss.
- Author
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Jamilloux Y, Mathis T, Grunewald O, Dollfuss H, Henry T, Sève P, and Meunier I
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- Adrenal Cortex Hormones therapeutic use, Adult, Antirheumatic Agents therapeutic use, Azathioprine therapeutic use, Dermatologic Agents therapeutic use, Ectodermal Dysplasia drug therapy, Hereditary Autoinflammatory Diseases drug therapy, Humans, Immunosuppressive Agents therapeutic use, Infliximab therapeutic use, Male, Mutation, Vision Disorders drug therapy, Ectodermal Dysplasia genetics, Hereditary Autoinflammatory Diseases genetics, Protein Kinases genetics, Vision Disorders genetics
- Published
- 2021
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- View/download PDF
16. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
- Author
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Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, and Dhaenens CM
- Subjects
- Adult, Aged, Child, Chromosome Breakpoints, Computer Simulation, Cone-Rod Dystrophies physiopathology, DNA Copy Number Variations genetics, Electroretinography, Eye Diseases, Hereditary physiopathology, Female, Genotype, Humans, Male, Middle Aged, Phenotype, Retinal Dystrophies physiopathology, Carrier Proteins genetics, Cone-Rod Dystrophies genetics, Eye Diseases, Hereditary genetics, Genetic Association Studies, Genetic Predisposition to Disease, Mutation genetics, Retinal Dystrophies genetics
- Abstract
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5 -associated patients might be due to the presence of additional gene defects.
- Published
- 2021
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17. The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell Disease.
- Author
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El Osta M, Naubourg P, Grunewald O, Renom G, Ducoroy P, and Périni JM
- Abstract
Previous research has shown that a MALDI-MS technique can be used to screen for sickle cell disease (SCD), and that a system combining automated sample preparation, MALDI-MS analysis and classification software is a relevant approach for first-line, high-throughput SCD screening. In order to achieve a high-throughput "plug and play" approach while detecting "non-standard" profiles that might prompt the misclassification of a sample, we have incorporated various sets of alerts into the decision support software. These included "biological alert" indicators of a newborn's clinical status (e. g., detecting samples with no or low HbA), and "technical alerts" indicators for the most common non-standard profiles, i.e., those which might otherwise lead to sample misclassification. We evaluated these alerts by applying them to two datasets (produced by different laboratories). Despite the random generation of abnormal spectra by one-off technical faults or due to the nature and quality of the samples, the use of alerts fully secured the process of automatic sample classification. Firstly, cases of β-thalassemia were detected. Secondly, after a visual check on the tagged profiles and reanalysis of the corresponding biological samples, all the samples were correctly reclassified without prompting further alerts. All of the samples for which the results were not tagged were well classified (i.e., sensitivity and specificity = 1). The alerts were mainly designed for detecting false-negative classifications; all the FAS samples misclassified by the software as FA (a false negative) were marked with an alert. The implementation of alerts in the NeoScreening
® Laboratory Information Management System's decision support software opens up perspectives for the safe, reliable, automated classification of samples, with a visual check solely on abnormal results or samples. It should now be possible to evaluate the combination of the NeoSickle® analytical solution and the NeoScreening® Laboratory Information Management System in a real-life, prospective study of first-line SCD screening., Competing Interests: Conflicts of InterestThe authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results., (© 2019 by the authors.)- Published
- 2019
- Full Text
- View/download PDF
18. [Reports from EuroMedLab by the interns].
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Desmous A, Galofaro E, Chtourou M, and Grunewald O
- Subjects
- Congresses as Topic organization & administration, Congresses as Topic standards, Congresses as Topic trends, Europe, Humans, Laboratories organization & administration, Laboratories standards, Laboratories trends, Societies, Medical organization & administration, Societies, Medical standards, Societies, Medical trends, Spain, Students, Medical, Chemistry, Clinical education, Chemistry, Clinical organization & administration, Chemistry, Clinical trends, Clinical Laboratory Techniques methods, Clinical Laboratory Techniques standards, Internship and Residency organization & administration, Internship and Residency standards
- Published
- 2019
- Full Text
- View/download PDF
19. A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform.
- Author
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Naubourg P, El Osta M, Rageot D, Grunewald O, Renom G, Ducoroy P, and Périni JM
- Abstract
The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle
® software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle haemoglobin and samples from premature newborns) were screened. The NeoSickle® software correctly classified 98.8% of the samples. This specific blood sample collection was enriched in qualified difficult samples (premature newborns, FAS samples, late and very late samples, etc.). In this study, the sensitivity of FS sample detection was found to be 100% on the Lille MS facility and 99% on the Dijon MS facility, and the specificity of FS sample detection was found to be 100% on both MS facilities. The MALDI-MS platform appears to be a robust solution for first-tier use to detect the HbS variant: it is reproducible and sensitive, it has the power to analyze 600-1000 samples per day and it can reduce the unit cost of testing thanks to maximal automation, minimal intervention by the medical team and good overall practicability. The MALDI-MS approach meets today's criteria for the large-scale, cost-effective screening of newborns, children and adults., Competing Interests: Conflicts of InterestPatrick Ducoroy was an employee of the University of Burgundy at the time of the research described here. He then founded the company Biomaneo, and currently serves as its CEO., (© 2019 by the authors.)- Published
- 2019
- Full Text
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20. Immunoglobulin G (IgG) and IgG subclass reference intervals in children, using Optilite® reagents.
- Author
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Grunewald O, Lopez B, Brabant S, Rogeau S, Deschildre A, Phrommavanh V, Lefort M, Moitrot E, Gyselinckx D, Deleplancque AS, Lefevre G, Labalette M, and Dubucquoi S
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Immunologic Deficiency Syndromes diagnosis, Immunoturbidimetry instrumentation, Immunoturbidimetry methods, Indicators and Reagents, Infant, Male, Immunoglobulin G blood, Immunoturbidimetry statistics & numerical data, Reference Values
- Abstract
Background: Immunoglobulin G (IgG) and IgG subclass assays are indicated in patients with suspected primary immunodeficiency (PID). Commercially available assays for IgG subclass determination are calibrated against various preparations, and so specific reference values are required for each of them. Using Optilite® reagents from The Binding Site Group Ltd., we sought to determine the pediatric IgG and IgG subclass reference intervals with respect to the ERM-DA470k certified reference material., Methods: Levels of IgG and IgG subclasses were analyzed in serum samples collected from a large cohort of PID-free children and adolescents. Reference intervals were calculated for previously published age groups (6-12 months, 12-18 months, 18 months-2 years, 2-3 years, 3-4 years, 4-6 years, 6-9 years, 9-12 years and 12-18 years), according to the Clinical and Laboratory Standards Institute's C28-A3c protocol., Results: A total of 456 serum samples were analyzed. The correlation between the total IgG and the sum of the IgG subclasses was good (r2=0.96). No statistically significant gender-specific differences were observed. Our results for the changes over time in IgG and IgG subclass levels are consistent with previous reports. The differences between our lower/upper reference limits and those in the literature are probably due to variations in calibration., Conclusions: Our present results provide a reliable basis for the diagnosis of PIDs in childhood and for the accreditation of laboratories using Optilite® immunoturbidimetric reagents for IgG subclass measurement. Laboratory scientists and clinicians should be aware of the need for manufacturer-specific IgG subclass reference intervals.
- Published
- 2018
- Full Text
- View/download PDF
21. [2009-2017 report on the attractiveness of laboratory medicine among young doctors.
- Author
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Cassinari K, Grunewald O, Snanoudj-Verber S, Moulis M, Rollier P, Barrand L, Porquet D, and Gueant JL
- Subjects
- Age Factors, Education, Medical, Graduate statistics & numerical data, Education, Medical, Graduate trends, Humans, Medicine classification, Medicine trends, Surveys and Questionnaires, Workforce, Career Choice, Medical Laboratory Science education, Motivation, Physicians statistics & numerical data
- Published
- 2018
- Full Text
- View/download PDF
22. [Kernicterus in the premature].
- Author
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YOFFER B, HOWARD JE, EBENSPERGER I, OLIVOS P, ROMAN C, and GRUNEWALD O
- Subjects
- Humans, Infant, Newborn, Biometry, Infant Mortality, Infant, Premature, Diseases, Kernicterus statistics & numerical data
- Published
- 1959
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