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Article ; Online: Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands.

Velikanova, Rimma / van der Schans, Simon / Bischof, Matthias / van Olden, Rudolf Walther / Postma, Maarten / Boersma, Cornelis

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research

2022 Volume 25, Issue 10, Page(s) 1696–1704

Abstract: Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age. Early detection and treatment, ... ...

Abstract	Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age. Early detection and treatment, ideally before symptom onset, maximize survival and achievement of age-appropriate motor milestones, with potentially substantial impact on health-related quality of life. Therefore, SMA is an ideal candidate for inclusion in newborn screening (NBS) programs. We evaluated the cost-effectiveness of including SMA in the NBS program in The Netherlands. Methods: We developed a cost-utility model to estimate lifetime health effects and costs of NBS for SMA and subsequent treatment versus a treatment pathway without NBS (ie, diagnosis and treatment after presentation with overt symptoms). Model inputs were based on literature, local data, and expert opinion. Sensitivity and scenario analyses were conducted to assess model robustness and validity of results. Results: After detection of SMA by NBS in 17 patients, the number of quality-adjusted life-years gained per annual birth cohort was estimated at 320 with NBS followed by treatment compared with treatment after clinical SMA diagnosis. Total healthcare costs, including screening, diagnostics, treatment, and other healthcare resource use, were estimated to be €12 014 949 lower for patients identified by NBS. Conclusions: NBS for early identification and treatment of SMA versus later symptomatic treatment after clinical diagnosis improves health outcomes and is less costly and, therefore, is a cost-effective use of resources. Results were robust in sensitivity and scenario analyses.
MeSH term(s)	Cost-Benefit Analysis ; Humans ; Infant ; Infant, Newborn ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Neonatal Screening/methods ; Netherlands ; Quality of Life
Language	English
Publishing date	2022-08-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1471745-1
ISSN	1524-4733 ; 1098-3015
ISSN (online)	1524-4733
ISSN	1098-3015
DOI	10.1016/j.jval.2022.06.010
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Book ; Online ; Thesis: Biometric authentication and authorisation infrastructures

Olden, Matthias

2008

Author's details	vorgelegt von Matthias Olden
Language	English
Size	Online-Ressource
Document type	Book ; Online ; Thesis
Thesis / German Habilitation thesis	Univ., Diss--Regensburg, 2009
Database	Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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Book ; Online ; Thesis: Biometric authentication and authorisation infrastructures

Olden, Matthias

2008

Author's details	vorgelegt von Matthias Olden
Language	English
Size	Online-Ressource
Document type	Book ; Online ; Thesis
Thesis / German Habilitation thesis	Univ., Diss--Regensburg, 2009
Database	Former special subject collection: coastal and deep sea fishing

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Article ; Online: IDGenerator: unique identifier generator for epidemiologic or clinical studies.

Olden, Matthias / Holle, Rolf / Heid, Iris M / Stark, Klaus

BMC medical research methodology

2016 Volume 16, Page(s) 120

Abstract: Background: Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data. The numbering system for identifiers needs to be random within ... ...

Abstract	Background: Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data. The numbering system for identifiers needs to be random within certain number constraints, to carry extensions coding for organizational information, or to contain multiple layers of numbers per participant to diversify data access. Available software can generate globally-unique identifiers, but identifier-creating tools meeting the special needs of epidemiological studies are lacking. We have thus set out to develop a software program to generate IDs for epidemiological or clinical studies. Results: Our software IDGenerator creates unique identifiers that not only carry a random identifier for a study participant, but also support the creation of structured IDs, where organizational information is coded into the ID directly. This may include study center (for multicenter-studies), study track (for studies with diversified study programs), or study visit (baseline, follow-up, regularly repeated visits). Our software can be used to add a check digit to the ID to minimize data entry errors. It facilitates the generation of IDs in batches and the creation of layered IDs (personal data ID, study data ID, temporary ID, external data ID) to ensure a high standard of data privacy. The software is supported by a user-friendly graphic interface that enables the generation of IDs in both standard text and barcode 128B format. Conclusion: Our software IDGenerator can create identifiers meeting the specific needs for epidemiologic or clinical studies to facilitate study organization and data privacy. IDGenerator is freeware under the GNU General Public License version 3; a Windows port and the source code can be downloaded at the Open Science Framework website: https://osf.io/urs2g/ .
MeSH term(s)	Clinical Trials as Topic/methods ; Epidemiologic Studies ; Humans ; Patient Identification Systems ; Software
Language	English
Publishing date	2016-09-15
Publishing country	England
Document type	Journal Article
ISSN	1471-2288
ISSN (online)	1471-2288
DOI	10.1186/s12874-016-0222-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: IDGenerator

Matthias Olden / Rolf Holle / Iris M. Heid / Klaus Stark

BMC Medical Research Methodology, Vol 16, Iss 1, Pp 1-

unique identifier generator for epidemiologic or clinical studies

2016 Volume 10

Abstract: Abstract Background Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data. The numbering system for identifiers needs to be random ... ...

Abstract	Abstract Background Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data. The numbering system for identifiers needs to be random within certain number constraints, to carry extensions coding for organizational information, or to contain multiple layers of numbers per participant to diversify data access. Available software can generate globally-unique identifiers, but identifier-creating tools meeting the special needs of epidemiological studies are lacking. We have thus set out to develop a software program to generate IDs for epidemiological or clinical studies. Results Our software IDGenerator creates unique identifiers that not only carry a random identifier for a study participant, but also support the creation of structured IDs, where organizational information is coded into the ID directly. This may include study center (for multicenter-studies), study track (for studies with diversified study programs), or study visit (baseline, follow-up, regularly repeated visits). Our software can be used to add a check digit to the ID to minimize data entry errors. It facilitates the generation of IDs in batches and the creation of layered IDs (personal data ID, study data ID, temporary ID, external data ID) to ensure a high standard of data privacy. The software is supported by a user-friendly graphic interface that enables the generation of IDs in both standard text and barcode 128B format. Conclusion Our software IDGenerator can create identifiers meeting the specific needs for epidemiologic or clinical studies to facilitate study organization and data privacy. IDGenerator is freeware under the GNU General Public License version 3; a Windows port and the source code can be downloaded at the Open Science Framework website: https://osf.io/urs2g/ .
Keywords	Identifier ; ID ; ID generator ; ID creator ; Unique ; Barcode ; Medicine (General) ; R5-920
Subject code	005
Language	English
Publishing date	2016-09-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Design and Evaluation of a Computer-Based 24-Hour Physical Activity Recall (cpar24) Instrument.

Kohler, Simone / Behrens, Gundula / Olden, Matthias / Baumeister, Sebastian E / Horsch, Alexander / Fischer, Beate / Leitzmann, Michael F

Journal of medical Internet research

2017 Volume 19, Issue 5, Page(s) e186

Abstract: Background: Widespread access to the Internet and an increasing number of Internet users offers the opportunity of using Web-based recalls to collect detailed physical activity data in epidemiologic studies.: Objective: The aim of this investigation ... ...

Abstract	Background: Widespread access to the Internet and an increasing number of Internet users offers the opportunity of using Web-based recalls to collect detailed physical activity data in epidemiologic studies. Objective: The aim of this investigation was to evaluate the validity and reliability of a computer-based 24-hour physical activity recall (cpar24) instrument with respect to the recalled 24-h period. Methods: A random sample of 67 German residents aged 22 to 70 years was instructed to wear an ActiGraph GT3X+ accelerometer for 3 days. Accelerometer counts per min were used to classify activities as sedentary (<100 counts per min), light (100-1951 counts per min), and moderate to vigorous (≥1952 counts per min). On day 3, participants were also requested to specify the type, intensity, timing, and context of all activities performed during day 2 using the cpar24. Using metabolic equivalent of task (MET), the cpar24 activities were classified as sedentary (<1.5 MET), light (1.5-2.9 MET), and moderate to vigorous (≥3.0 MET). The cpar24 was administered twice at a 3-h interval. The Spearman correlation coefficient (r) was used as primary measure of concurrent validity and test-retest reliability. Results: As compared with accelerometry, the cpar24 underestimated light activity by -123 min (median difference, P difference <.001) and overestimated moderate to vigorous activity by 89 min (P difference <.001). By comparison, time spent sedentary assessed by the 2 methods was similar (median difference=+7 min, P difference=.39). There was modest agreement between the cpar24 and accelerometry regarding sedentary (r=.54), light (r=.46), and moderate to vigorous (r=.50) activities. Reliability analyses revealed modest to high intraclass correlation coefficients for sedentary (r=.75), light (r=.65), and moderate to vigorous (r=.92) activities and no statistically significant differences between replicate cpar24 measurements (median difference for sedentary activities=+10 min, for light activities=-5 min, for moderate to vigorous activities=0 min, all P difference ≥.60). Conclusion: These data show that the cpar24 is a valid and reproducible Web-based measure of physical activity in adults.
MeSH term(s)	Adult ; Aged ; Computers/utilization ; Equipment Design/instrumentation ; Equipment Design/methods ; Exercise/physiology ; Female ; Humans ; Internet/utilization ; Male ; Middle Aged ; Time Factors ; Young Adult
Language	English
Publishing date	2017-05-30
Publishing country	Canada
Document type	Journal Article
ZDB-ID	2028830-X
ISSN	1438-8871 ; 1439-4456
ISSN (online)	1438-8871
ISSN	1439-4456
DOI	10.2196/jmir.7620
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: On the impact of different approaches to classify age-related macular degeneration: Results from the German AugUR study.

Brandl, Caroline / Zimmermann, Martina E / Günther, Felix / Barth, Teresa / Olden, Matthias / Schelter, Sabine C / Kronenberg, Florian / Loss, Julika / Küchenhoff, Helmut / Helbig, Horst / Weber, Bernhard H F / Stark, Klaus J / Heid, Iris M

Scientific reports

2018 Volume 8, Issue 1, Page(s) 8675

Abstract: While age-related macular degeneration (AMD) poses an important personal and public health burden, comparing epidemiological studies on AMD is hampered by differing approaches to classify AMD. In our AugUR study survey, recruiting residents from in/ ... ...

Abstract	While age-related macular degeneration (AMD) poses an important personal and public health burden, comparing epidemiological studies on AMD is hampered by differing approaches to classify AMD. In our AugUR study survey, recruiting residents from in/around Regensburg, Germany, aged 70+, we analyzed the AMD status derived from color fundus images applying two different classification systems. Based on 1,040 participants with gradable fundus images for at least one eye, we show that including individuals with only one gradable eye (n = 155) underestimates AMD prevalence and we provide a correction procedure. Bias-corrected and standardized to the Bavarian population, late AMD prevalence is 7.3% (95% confidence interval = [5.4; 9.4]). We find substantially different prevalence estimates for "early/intermediate AMD" depending on the classification system: 45.3% (95%-CI = [41.8; 48.7]) applying the Clinical Classification (early/intermediate AMD) or 17.1% (95%-CI = [14.6; 19.7]) applying the Three Continent AMD Consortium Severity Scale (mild/moderate/severe early AMD). We thus provide a first effort to grade AMD in a complete study with different classification systems, a first approach for bias-correction from individuals with only one gradable eye, and the first AMD prevalence estimates from a German elderly population. Our results underscore substantial differences for early/intermediate AMD prevalence estimates between classification systems and an urgent need for harmonization.
MeSH term(s)	Aged ; Aged, 80 and over ; Female ; Germany/epidemiology ; Humans ; Macular Degeneration/classification ; Macular Degeneration/diagnosis ; Macular Degeneration/epidemiology ; Male ; Prevalence ; Retina/pathology ; Risk Factors
Language	English
Publishing date	2018-06-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-018-26629-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.

Joseph, Christina B / Mariniello, Marta / Yoshifuji, Ayumi / Schiano, Guglielmo / Lake, Jennifer / Marten, Jonathan / Richmond, Anne / Huffman, Jennifer E / Campbell, Archie / Harris, Sarah E / Troyanov, Stephan / Cocca, Massimiliano / Robino, Antonietta / Thériault, Sébastien / Eckardt, Kai-Uwe / Wuttke, Matthias / Cheng, Yurong / Corre, Tanguy / Kolcic, Ivana /

Journal of the American Society of Nephrology : JASN

2022 Volume 33, Issue 3, Page(s) 511–529

Abstract: Background: Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown.: Methods: We conducted a meta- ... ...

Abstract	Background: Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown. Methods: We conducted a meta-analysis of genome-wide association studies for raw (uUMOD) and indexed to creatinine (uUCR) urinary levels of uromodulin in 29,315 individuals of European ancestry from 13 cohorts. We tested the distribution of candidate genes in kidney segments and investigated the effects of keratin-40 (KRT40) on uromodulin processing. Results: Two genome-wide significant signals were identified for uUMOD: a novel locus ( Conclusions: Common variants in
MeSH term(s)	Creatinine ; Genome-Wide Association Study ; Humans ; Kidney ; Polymorphism, Single Nucleotide ; Protein Disulfide-Isomerases/genetics ; Uromodulin/genetics
Chemical Substances	Uromodulin ; Creatinine (AYI8EX34EU) ; PDILT protein, human (EC 5.3.4.1) ; Protein Disulfide-Isomerases (EC 5.3.4.1)
Language	English
Publishing date	2022-02-28
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.2021040491
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Article ; Online: Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Garnier, Nicolas / Berghout, Joanne / Zygmunt, Aldona / Singh, Deependra / Huang, Kui A / Kantz, Waltraud / Blankart, Carl Rudolf / Gillner, Sandra / Zhao, Jiawei / Roettger, Richard / Saier, Christina / Kirschner, Jan / Schenk, Joern / Atkins, Leon / Ryan, Nuala / Zarakowska, Kaja / Zschüntzsch, Jana / Zuccolo, Michela / Müllenborn, Matthias /

Man, Yuen-Sum / Goodman, Liz / Trad, Marie / Chalandon, Anne Sophie / Sansen, Stefaan / Martinez-Fresno, Maria / Badger, Shirlene / Walther van Olden, Rudolf / Rothmann, Robert / Lehner, Patrick / Tschohl, Christof / Baillon, Ludovic / Gumus, Gulcin / Gross, Edith / Stefanov, Rumen / Iskrov, Georgi / Raycheva, Ralitsa / Kostadinov, Kostadin / Mitova, Elena / Einhorn, Moshe / Einhorn, Yaron / Schepers, Josef / Hübner, Miriam / Alves, Frauke / Iskandar, Rowan / Mayer, Rudolf / Renieri, Alessandra / Piperkova, Aneta / Gut, Ivo / Beltran, Sergi / Matthiesen, Mads Emil / Poetz, Marion / Hansson, Mats / Trollmann, Regina / Agolini, Emanuele / Ottombrino, Silvia / Novelli, Antonio / Bertini, Enrico / Selvatici, Rita / Farnè, Marianna / Fortunato, Fernanda / Ferlini, Alessandra

PloS one

2023 Volume 18, Issue 11, Page(s) e0293503

Abstract: Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research ... ...

Abstract	Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.
MeSH term(s)	Infant, Newborn ; Humans ; Child ; Neonatal Screening/methods ; Rare Diseases/diagnosis ; Rare Diseases/epidemiology ; Rare Diseases/genetics ; Artificial Intelligence ; Digital Technology ; Europe
Language	English
Publishing date	2023-11-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0293503
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study.

Brandl, Caroline / Breinlich, Valentin / Stark, Klaus J / Enzinger, Sabrina / Aßenmacher, Matthias / Olden, Matthias / Grassmann, Felix / Graw, Jochen / Heier, Margit / Peters, Annette / Helbig, Horst / Küchenhoff, Helmut / Weber, Bernhard H F / Heid, Iris M

PloS one

2016 Volume 11, Issue 11, Page(s) e0167181

Abstract: Age-related macular degeneration (AMD) is a vision impairing disease of the central retina characterized by early and late forms in individuals older than 50 years of age. However, there is little knowledge to what extent also younger adults are affected. ...

Abstract	Age-related macular degeneration (AMD) is a vision impairing disease of the central retina characterized by early and late forms in individuals older than 50 years of age. However, there is little knowledge to what extent also younger adults are affected. We have thus set out to estimate the prevalence of early AMD features and late AMD in a general adult population by acquiring color fundus images in 2,840 individuals aged 25 to 74 years of the Cooperative Health Research in the Region of Augsburg project (KORA) in South Germany. Among the 2,546 participants with gradable images for each eye, 10.9% (n = 277) had early AMD features (applying the 9-step Age-Related Eye Disease Study Severity Scale), 0.2% (n = 6) had late AMD. Prevalence increased with age, reaching 26.3% for early AMD features and 1.9% for late AMD at the age 70+. However, signs of early AMD were found in subjects as young as 25 years, with the risk for early AMD features increasing linearly by years of age in men, and, less consistent with a linear increase, in women. Risk for early AMD features increased linearly by pack years of smoking in men, not in women, nor was there any association with other lifestyle or metabolic factors. By providing much sought-after prevalence estimates for AMD from Central Europe, our data underscores a substantial proportion of the adult population with signs of early AMD, including individuals younger than 50 years. This supports the notion that early AMD features in the young might be under-acknowledged.
MeSH term(s)	Adult ; Age Factors ; Aged ; Cross-Sectional Studies ; Female ; Germany/epidemiology ; Health Surveys ; Humans ; Macular Degeneration/epidemiology ; Macular Degeneration/etiology ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Sex Factors ; Smoking/adverse effects
Language	English
Publishing date	2016
Publishing country	United States
Document type	Journal Article
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0167181
Database	MEDical Literature Analysis and Retrieval System OnLINE

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