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PubMed2026

An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.

PURPOSE: Functional genomics (FG) approaches, such as RNA-seq and proteomics, offer a complementary diagnostic modality for individuals whose cases remain unsolved after genomic sequencing. This study evaluates the cost-effectiveness and cost-benefit of FG for individuals with suspected monogenic disorders relative to manual reanalysis of genomic data at 18 months. METHODS: A decision tree model compared the costs and outcomes of FG and 18-month reanalysis using data from two Australian Undiagnosed Disease Programs. Deterministic and probability sensitivity analysis were performed. RESULTS: With a diagnostic yield of 13%, FG enabled 4 additional diagnoses per 100 individuals tested at an additional cost of $390 (US $240), resulting in an incremental cost-effectiveness ratio of $8,550 ($5,313) and an 85% probability of being cost-effective. CONCLUSION: Functional genomics enables timely diagnosis for individuals with suspected monogenic disorders by evaluating the functional impact of variants of uncertain significance, offering an advantage over reanalyzing genomic data at 18 months. Integration into the Australian healthcare system, supported by collaborative networks and secure data-sharing infrastructure, coupled with addressing barriers to accessing funded genomic testing, could lead to an annual net benefit of up to $1.1 million ($0.7 M).

Functional genomics↗
PubMed2003

Criteria of interface evaluation for computer assisted surgery systems.

OBJECTIVES: The evaluation of computer assisted surgery (CAS) systems in terms of clinical outcomes and ergonomic features is more and more relevant. The goal of this paper is to provide criteria to define effective evaluation protocols of HCI for CAS systems. METHOD: The proposed criteria include the use of two questionnaires prepared by the authors, aimed at analyzing the subjective feeling of the surgeons in using the system's tools, and objective aspects of the system. These questionnaire have to be submitted to system's end-users and to experts in HCI development iteratively during the system development or once at the end. A quantitative evaluation of the main parameters related to the surgical application is also required as an index of system efficacy. The demonstration application was planning software developed for the total knee replacement (TKR). RESULTS AND CONCLUSIONS: In our TKR planning software the proposed evaluation procedure provided useful indications about the efficacy of HCI and also about further developments of its design and functionality. Moreover, since surgical training systems and surgical navigation platforms also share data treatment and layout similar to the presented TKR planner, these kinds of applications can benefit directly from the proposed approach to HCI design and evaluation.

Arthroplasty, Replacement, Knee↗
PubMed2006

Longitudinal formant analysis after cochlear implantation in school-aged children.

INTRODUCTION: The purpose of this investigation was to describe the correlation between vocal and hearing development by longitudinal analysis of sound spectrograms, as a basic system for evaluating progress in vocal development. SUBJECTS AND METHODS: Two school-aged children with prelingual deafness were evaluated diachronically to assess speech perception and speech intelligibility after cochlear implantation. One child had non-syndromic hearing impairment without any known neurological deficit except for hearing loss, while the other had hearing impairment accompanied by mild mental retardation and attention deficit disorder. Their voices were recorded for monthly follow-up after cochlear implantation; these were used for formant analysis and compared with their mother's voice, and alteration of the formant data was also compared with monosyllable speech perception. RESULTS: Formant analysis demonstrated high concordance was observed between monosyllable speech perception and speech intelligibility. F1-F2 forms of the patients more closely resembled those of their mothers after 1 year's follow-up. The time point at which speech development altered was very similar in both cases although the final outcomes were different. CONCLUSION: Fair improvement of articulation after cochlear implant was demonstrated by the F1-F2 gram analysis. This procedure can be used for data sharing and cooperation between medical and educational specialists.

Child↗
PubMed2004

Optimal timing of cardiac transplantation after ventricular assist device implantation.

OBJECTIVE: We sought to determine the influence of the interval from ventricular assist device implantation to cardiac transplantation on end-organ function and posttransplantation survival. METHODS: United Network for Organ Sharing data on 2692 heart transplantations performed in adult patients in the United States between October 1999 and March 2001 were reviewed. RESULTS: Seventeen percent (466) of adult heart transplant recipients were bridged to transplantation with a ventricular assist device. Almost half of patients with ventricular assist devices undergoing transplantation were upgraded to status 1A as a result of ventricular assist device-related complications occurring more than 30 days after ventricular assist device implantation. Creatinine and total bilirubin levels were less in patients undergoing transplantation after 2 to 4 weeks of mechanical support. One-year survival was higher in the nonventricular assist device than in the ventricular assist device group (85.7% vs 79.7%, P =.0004). Within the ventricular assist device group, survival was lower for patients undergoing transplantation within 2 weeks of ventricular assist device implantation compared with those undergoing transplantation later (74.2% vs 84.2 %, P =.03). One-year survival among patients supported with a ventricular assist device for more than 30 days without complications was 91.4%. Multivariate analysis demonstrated a significant independent effect of the time interval from ventricular assist device implantation to transplantation on posttransplantation mortality and suggested that a period of lowest risk might exist between 1 and 3 months after implantation. CONCLUSIONS: Survival after cardiac transplantation is influenced by the time interval from ventricular assist device insertion to transplantation. Survival is significantly lower when performed within 2 to 4 weeks of ventricular assist device implantation.

Adult↗
PubMed2026

Project ODIN: advancing environmental genomic surveillance for public health across sub-Saharan Africa.

Persistent SARS-CoV-2 transmission, ongoing mpox outbreaks, and the continued spread of endemic diseases such as typhoid fever and cholera underscore the urgent need for global, multiomics surveillance. In this Personal View, we present Project ODIN, a consortium of European and African partners launched in 2023 that aims to meet this challenge by deploying innovative systems for near real-time pathogen detection and actionable public health insights. The project is a collaboration between high-income and low-income countries in northern Europe and sub-Saharan Africa. Focusing on low-income and middle-income countries, ODIN integrates metagenomics with mobile laboratory systems for comprehensive pathogen monitoring across diverse environments. ODIN emphasises standardised sampling, bioinformatics pipelines, and data-sharing protocols to ensure reliable, interoperable results while addressing infrastructure and resource limitations. By bridging gaps in genomic surveillance, these initiatives seek to strengthen outbreak preparedness, improve pathogen detection, monitor antimicrobial resistance, and provide a holistic approach to One Health challenges. Together, these innovations could advance global surveillance capacity-particularly in under-resourced regions-paving the way for effective disease control and evidence-based policy making.

Humans↗
PubMed2005

Virtual 10-20 measurement on MR images for inter-modal linking of transcranial and tomographic neuroimaging methods.

It is important to create a link between stereotaxic coordinates and head-surface-based positioning systems in order to share data between tomographic and transcranial brain mapping studies. In our previous studies, we established the probabilistic correspondence of the international 10-20 positions to the standard stereotaxic coordinate systems and made a reference database. However, its expansion required the physical marking of the 10-20 positions and the subsequent acquisition of MR images. To avoid such tedious procedures, we developed a virtual 10-20 measurement algorithm that can be applied to re-analyze any structural MR image that covers the whole head. As in the physical 10-20 measurements, with the reference points given, the algorithm automatically determines each 10-20 position step by step. Using the virtual 10-20 measurement method, we re-analyzed the MR images of 17 healthy subjects for whom we had determined 10-20 positions by physical marking in our previous study. The acquired 10-20 positions were normalized to the Montreal Neurological Institute (MNI) stereotactic coordinates and compared with the positions previously determined by physical measurements. 10-20 positions determined using the virtual and physical methods were roughly consistent. Average standard deviations for virtual and physical methods were 7.7 mm and 9.0 mm, respectively. There was a systematic shift in the virtual method, likely due to the absence of hair interference. We corrected the shift with affine transformation. The virtual 10-20 measurement method proved to be an effective alternative to physical marking. This method will serve as an essential tool for expanding the reference database and will further strengthen the link between tomographic and transcranial brain mapping methods.

Adult↗
PubMed2006

Comparison of bootstrap approaches for estimation of uncertainties of DTI parameters.

Bootstrap is an empirical non-parametric statistical technique based on data resampling that has been used to quantify uncertainties of diffusion tensor MRI (DTI) parameters, useful in tractography and in assessing DTI methods. The current bootstrap method (repetition bootstrap) used for DTI analysis performs resampling within the data sharing common diffusion gradients, requiring multiple acquisitions for each diffusion gradient. Recently, wild bootstrap was proposed that can be applied without multiple acquisitions. In this paper, two new approaches are introduced called residual bootstrap and repetition bootknife. We show that repetition bootknife corrects for the large bias present in the repetition bootstrap method and, therefore, better estimates the standard errors. Like wild bootstrap, residual bootstrap is applicable to single acquisition scheme, and both are based on regression residuals (called model-based resampling). Residual bootstrap is based on the assumption that non-constant variance of measured diffusion-attenuated signals can be modeled, which is actually the assumption behind the widely used weighted least squares solution of diffusion tensor. The performances of these bootstrap approaches were compared in terms of bias, variance, and overall error of bootstrap-estimated standard error by Monte Carlo simulation. We demonstrate that residual bootstrap has smaller biases and overall errors, which enables estimation of uncertainties with higher accuracy. Understanding the properties of these bootstrap procedures will help us to choose the optimal approach for estimating uncertainties that can benefit hypothesis testing based on DTI parameters, probabilistic fiber tracking, and optimizing DTI methods.

Brain↗
PubMed2026

289th ENMC international workshop: assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 - 28 September 2025, Hoofddorp, The Netherlands.

Adeno-associated virus (AAV) mediated gene therapies has emerged as a potentially transformative treatment approaches for neuromuscular disorders, with two FDA-approved products now in widespread clinical use: onasemnogene abeparvovec (Zolgensma) for spinal muscular atrophy and delandistrogene moxeparvovec-rokl (Elevidys) for Duchenne Muscular Dystrophy. However, severe and occasionally fatal adverse events affecting vital organs, including the blood, liver, muscle, and heart, have emerged in both clinical trials and real-world post marketing settings. The 289th European NeuroMuscular Centre (ENMC) workshop convened 38 participants from patient advocacy groups, industry, and preclinical and clinical research groups to collaboratively review these toxicities, their underlying mechanisms, and potential mitigation and monitoring strategies. Discussions addressed the clinical spectrum and biological drivers of these events, the respective roles of innate and adaptive immunity, the contribution of specific vector characteristics as well as of the specific disease and recipient. The application of risk stratification and immunosuppressive regimens for prevention, monitoring, and management were considered. Emerging toxicities, including capillary leak syndrome, endothelial and dorsal root ganglia injuries, were reviewed alongside corresponding preclinical data from non-human primates. Participants agreed on the need to harmonize standard operating procedures, clinical guidelines, and data-sharing practices, and endorsed collaborative initiatives to proactively address critical gaps and unresolved key questions through a patient-centered framework.

Adaptive immune response↗
PubMed2005

Stakeholder position paper: economist's perspectives on antibiotic use in animals.

Economics seeks to understand and explain the allocation of resources within society and to suggest appropriate policy to achieve goals such as optimal efficiency. Relating antimicrobial use and antibiotic resistance is a complex task and requires very clear and careful analyses of many relationships. To address these relationships, antibiotic use data must be linked with other basic data. Ideally, a complex relational database needs to be developed. These must include data on: antimicrobial usage, farm-level animal productivity, basic disease, basic farm management, consumer response, and antimicrobial resistance at multiple levels (farm, during process, on a variety of both animal, vegetable and grain-derived food products, from humans, from other animal species, and from the environment) among other data. Such a complex relational database can help with the attribution and risk assessment process. Also these linked data are needed in order to develop the economic production models and other economic models, as well as control for confounding so that there is both adequate and appropriate statistical control. Antimicrobial usage data may become economically important for reasons unrelated to animal productivity and animal health. With expanding global trade of animals and animal products, there have been changes in restrictions and regulations associated with the movement of products. Future trade opportunities may be linked to antimicrobial usage. The European Union banned the use of antimicrobials for growth-promoting purposes based on perceived risk and on public opinion. Monitoring antimicrobial use, disease occurrence, and resistance patterns following changes in usage that are a result of either policy changes or response to new information will help in the understanding of the complex relationships in microbial and disease ecology. There is a lot of evidence substantiating the productivity and profitability gains to producers from the use of antimicrobials. There is also evidence for the potential gains to consumers, both from an economic perspective as well as from a health perspective. Economists can help identify the implications of these relationships both at a micro- and macro-economic level; both relative to producer and to consumer welfare. We are at a pivotal time in history with sufficient analytical expertise and tools to address this complex issue from a scientific perspective. Linking various agencies so there can be coordination of data collection and data sharing is needed to successfully address this topic.

Animal Husbandry↗
PubMed2026

Bundibugyo at the border: The 2026 Ebola outbreak and the case for pre-emptive countermeasure equity.

The 2026 Ebola outbreak caused by Bundibugyo ebolavirus in the Democratic Republic of the Congo and Uganda exposes a persistent structural flaw in global health security: preparedness remains overwhelmingly reactive and pathogen-specific. Despite the $518 million Africa CDC-WHO joint continental plan, no licensed BDBV vaccine or therapeutic is available; a 21-day (three-week) detection delay and cross-border transmission expose inadequate inter-epidemic investment in non-Zaire ebolavirus countermeasures. We argue for sustained, ring-fenced financing, institutionalised cross-border coordination, species-inclusive diagnostics, and real-time genomic data sharing to move African Ebola preparedness from reactive to pre-emptive.

Hemorrhagic Fever, Ebola↗
PubMed2005

Ethical considerations in the early composite tissue allograft experience: a review of the Louisville Ethics Program.

This paper reviews the formulation and evolution of the ethical component in one of the earliest clinical composite tissue allograft (CTA) programs, the hand transplantation program in Louisville, Kentucky, USA. The purpose was to derive lessons and define principles to give guidance for future programs and introduction of new CTA. We reviewed the initial ethical considerations, including input from respected ethical scholars, guidelines for innovative procedures transparency in public and professional scrutiny, and compliance with human studies regulations (IRB approval). We found the initial focus on ethics, scholarly input, guidelines for innovative procedures, and human studies protection regulations to be valid. Moreover, we noted the effect of autonomy in subjective, quality-of-life benefits on equipoise and effective risk-benefit analysis in effective informed consent. We found that psychiatric screening and support to be exceptionally valuable in protecting autonomy, suitability for participation, assessing personality organization, and determining compliance ability. We conclude that the program ethical principles were validated. For future CTA programs and procedures, we recommend an ethical emphasis with adherence to high standards and transpire to independence to scrutiny and oversight. We recommend protection of autonomy judgments in equipoise judgment and informed consent. We recommend skilled psychiatric screening and support. We endorse scholarship, scientific accuracy, and data sharing.

Humans↗
PubMed2026

The first 25 years of the NICHD structural birth defects initiative.

Initiated by NICHD and crafted with clinicians and laboratory scientists, the Structural Birth Defects (SBD) Initiative has supported research into the clinical, genetic, biochemical, mechanistic, developmental, and environmental basis of human disorders with structural anomalies for 25 years. The SBD Initiative has supported and continues to fund research teams studying a broad spectrum of single gene (Mendelian) disorders along with defining loci and susceptibility genes in oligogenic phenotypes, including genetic and environmental risk modifiers. The Initiative required and currently convenes biennial meetings of SBD investigators to share data, exchange ideas and initiate collaborations. In alternate years, online trainee symposia provide a platform for medical fellows, postdoctoral fellows and graduate students to present their data, with the goal of attracting and retaining this future generation of investigators in SBD research. In addition to determining their etiology, the SBD Initiative has supported remarkable progress in developing a fundamental mechanistic understanding of this diverse group of phenotypes. Together, scientific progress has led to translational benefits that include 1) widespread diagnostic testing for families with these disorders, both within the United States and across the world, and 2) pharmacological treatments for affected individuals. This progress has fulfilled the promise of the vision of the architects of the program, which is reviewed in this article, and continues to drive the field forward.

Animals↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: atrial septal defect.

The extant nomenclature for atrial septal defect (ASD) is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented.

Databases, Factual↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: atrioventricular canal defect.

The extant nomenclature for atrioventricular (AV) canal/atrioventricular septal defect is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. The three general categories are: partial AV canal (ostium primum defect), transitional (intermediate) AV canal, and complete AV canal. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented.

Databases, Factual↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: aortopulmonary window.

The extant nomenclature for aortopulmonary window (AP window) and pulmonary artery origin from ascending aorta (hemitruncus) is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented.

Aortopulmonary Septal Defect↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: pulmonary venous anomalies.

The extant nomenclature for pulmonary venous anomalies is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. The basis for classification are the prenatal errors of embryologic development. The major categories include: partially anomalous pulmonary venous connection, totally anomalous pulmonary venous connection, atresia of the common pulmonary vein, cor triatriatum, and stenosis or abnormal number of pulmonary veins. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Potential diagnostic-related risk factors are presented.

Databases, Factual↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: systemic venous anomalies.

The extant nomenclature for systemic venous anomalies is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. This nomenclature system classifies systemic venous anomalies into two primary groups by venous segment: (1) systemic venous anomalies, superior vena cava; and (2) systemic venous anomalies, inferior vena cava. Subsets are clearly defined and categorized. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented.

Coronary Vessel Anomalies↗
PubMed2000

Congenital Heart Surgery Nomenclature and Database Project: tetralogy of Fallot.

The extant nomenclature for tetralogy of Fallot (TOF) is reviewed for the purpose of establishing a unified reporting system. The subject was debated and reviewed by members of the STS-Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic Surgery. All efforts were made to include all relevant nomenclature categories using synonyms where appropriate. The general categories of TOF are: classic TOF with varying degrees of pulmonary stenosis, TOF with common atrioventricular canal defect, and TOF with absent pulmonary valve. Although centers may choose to code a fourth general category, TOF with pulmonary atresia, this lesion will be grouped with pulmonary atresia-ventricular septal defect for multi-institutional analysis. A comprehensive database set is presented that is based on a hierarchical scheme. Data are entered at various levels of complexity and detail that can be determined by the clinician. These data can lay the foundation for comprehensive risk stratification analyses. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented.

Databases, Factual↗