Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.

Over the past decade, several large registries of patients with idiopathic pulmonary fibrosis (IPF) have been established. These registries are collecting a wealth of longitudinal data on thousands of patients with this rare disease. The data collected in these registries will be complementary to data collected in clinical trials because the patient populations studied in registries have a broader spectrum of disease severity and comorbidities and can be followed for a longer period of time. Maintaining the quality and completeness of registry databases presents administrative and resourcing challenges, but it is important to ensuring the robustness of the analyses. Data from patient registries have already helped improve understanding of the clinical characteristics of patients with IPF, the impact that the disease has on their quality of life and survival, and current practices in diagnosis and management. In the future, analyses of biospecimens linked to detailed patient profiles will provide the opportunity to identify biomarkers linked to disease progression, facilitating the development of precision medicine approaches for prognosis and therapy in patients with IPF.

This commentary discusses the need for developing patient registries of substance use disorders (SUD) in general medical settings. A patient registry is a tool that documents the natural history of target diseases. Clinicians and researchers use registries to monitor patient comorbidities, care procedures and processes, and treatment effectiveness for the purpose of improving care quality. Enactments of the Affordable Care Act 2010 and the Mental Health Parity and Addiction Equity Act 2008 open opportunities for many substance users to receive treatment services in general medical settings. An increased number of patients with a wide spectrum of SUD will initially receive services with a chronic disease management approach in primary care. The establishment of computer-based SUD patient registries can be assisted by wide adoption of electronic health record systems. The linkage of SUD patient registries with electronic health record systems can facilitate the advancement of SUD treatment research efforts and improve patient care.

Due to growth of occupational diseases and also increase of public awareness about their consequences, attention to various aspects of diseases and improve occupational health and safety has found great importance. Therefore, there is the need for appropriate information management tools such as registries in order to recognitions of diseases patterns and then making decision about prevention, early detection and treatment of them. These registries have different characteristics in various countries according to their occupational health priorities.

Total joint arthroplasty is performed to decreased pain, restore function and productivity and improve quality of life.One-year implant survivorship following surgery is nearly 100%; however, self-reported satisfaction is 80% after total knee arthroplasty and 90% after total hip arthroplasty.Patient-reported outcomes (PROs) are produced by patients reporting on their own health status directly without interpretation from a surgeon or other medical professional; a PRO measure (PROM) is a tool, often a questionnaire, that measures different aspects of patient-related outcomes.Generic PROs are related to a patient's general health and quality of life, whereas a specific PRO is focused on a particular disease, symptom or anatomical region.While revision surgery is the traditional endpoint of registries, it is blunt and likely insufficient as a measure of success; PROMs address this shortcoming by expanding beyond survival and measuring outcomes that are relevant to patients - relief of pain, restoration of function and improvement in quality of life.PROMs are increasing in use in many national and regional orthopaedic arthroplasty registries.PROMs data can provide important information on value-based care, support quality assurance and improvement initiatives, help refine surgical indications and may improve shared decision-making and surgical timing.There are several practical considerations that need to be considered when implementing PROMs collection, as the undertaking itself may be expensive, a burden to the patient, as well as being time and labour intensive. Cite this article: EFORT Open Rev 2019;4 DOI: 10.1302/2058-5241.4.180080.

An institutional registry covering all surgical specialties could be an implementation tool in quality benchmarking between hospitals and aid determination of their cost-effectiveness. The objective of this systematic literature review was to evaluate original articles on existing prospective surgical registries that can be used by single institutions across surgical specialties.

The design and construction of novel biological systems by combining basic building blocks represents a dominant paradigm in synthetic biology. Creating and maintaining a database of these building blocks is a way to streamline the fabrication of complex constructs. The Registry of Standard Biological Parts (Registry) is the most advanced implementation of this idea.

The establishment of effective population-based cancer registries (PBCRs) in low-resource countries is challenging. There is a lack of knowledge among cancer patients who do not go to treatment centres, there is an absence of mortality information, frequently employed as a complementary back-up in cancer registries and a lack of efficient and accurate population census. Hospital-based cancer registries (HBCRs) have a different, although complementary role: they focus more on clinical information about patients and are sources of cancer information about cancer diagnosis, treatment and survival in African countries. Establishing and sustaining an HBCR in a cancer centre or cancer treatment unit can provide data about the mode of diagnosis, the clinical features of the tumour, treatment and follow-up details. In addition, the HBCR can be a sustainable source to help sustain local cancer-control programmes. The HBCR can also be a source of information for PBCRs.

The incident of infertility is continuously increasing. As a result, the demand for medical care such as assisted reproductive technology (ART) technology is equally increasing. In order to manage the growing data and information collected on ART, there is a need for a registry system can provide accurate statistics about activities and outcomes and ensure the quality control. Therefore, the aim of this study was to examine and compare In vitro fertilization (IVF) and ART registries.

The global epidemic of diabetes mellitus continues to expand, including its large impact on national health care. Measuring diabetes outcomes and their causes of variation highlights areas for improvement in care and efficiency gains; large registries carry this potential. By means of a systematic review, we aimed to give an overview of national registries worldwide by quantifying their data and assessing their influence on diabetes care.

Study Design Systematic review. Objective We assessed the current state of spine registries by collecting spine trauma data and assessing their compliance to defined registry standards of being clinical quality. We ascertained if these registries collected spinal cord injury data alone or with spine column trauma data. Methods A systematic review was performed using MEDLINE and Embase databases for articles describing dedicated spinal cord and spine column databases published between January 1990 and April 2011. Correspondence with these registries was performed via e-mail or post. When no correspondence was possible, the registries were analyzed with best information available. Results Three hundred eight full-text articles were reviewed. Of 41 registries identified, 20 registries fulfilled the criteria of being clinical quality. The main reason for failure to attain clinical quality designation was due to the unavailability of patient outcomes. Eight registries collected both spine column and spinal cord injury data with 33 collecting only traumatic spinal cord injury data. Conclusion There is currently a paucity of clinical quality spine trauma registries. Clinical quality registries are important tools for demonstrating trends and outcomes, monitoring care quality, and resolving controversies in the management of spine trauma. An international spine trauma data set (containing both spinal cord and spine column injury data) and standardized approach to recording and analysis are needed to allow international multicenter collaboration and benchmarking.

Kidney biopsy registries all over the world benefit research, teaching and health policy. Comparison, aggregation and exchange of data is however greatly dependent on how registration and coding of kidney biopsy diagnoses are performed. This paper gives an overview over kidney biopsy registries, explores how these registries code kidney disease and identifies needs for improvement of coding practice.

We discuss the role of observational studies and cardiac registries during the COVID-19 pandemic. We focus on published cardiac registries and highlight contributions to the field that have had clinical implications.

The importance of dental implant quality register has been well-documented. However, no systematic review conducted on dental implant quality register can be found in the literature. Therefore, the purpose of this study was to study the existed dental implant quality registries to explain the goals, data elements, and reports of dental implant quality registries.

The objective of this systematic review was to examine the existing evidence base for the cost-effectiveness or cost-benefit of clinical quality registries (CQRs).

Data management related to eye injuries is vital in improving care process, improving treatment and implementing preventive programs. Implementation of a registry to manage data is an integral part of this process. This systematic review aimed to identify processes related to eye injury registries.

The International Severe Asthma Registry (ISAR; http://isaregistries.org/) uses standardised variables to enable multi-country and adequately powered research in severe asthma. This study aims to look at the data countries within ISAR and non-ISAR countries reported collecting that enable global research that support individual country interests.

Hemolytic uremic syndrome (HUS) is a rare condition which diagnosed with the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal injury. There is a high requirement for research to discover treatments. HUS registries can be used as an important information infrastructure. In this study, we identified and compared the different features of HUS registries to present a guide for the development and implementation of HUS registries.

Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.

National cardiac registries are increasingly used for informing health policy, improving the quality and cost-effectiveness of patient care, clinical research, and monitoring the safety of novel treatments. However, the quality of registries is variable. We aimed to assess the characteristics and quality of national cardiac registries across all subspecialties of cardiac care.