Clinical Collaboration Research Articles

A cloud computing based 12-lead ECG telemedicine service

BackgroundDue to the great variability of 12-lead ECG instruments and medical specialists’ interpretation skills, it remains a challenge to deliver rapid and accurate 12-lead ECG reports with senior cardiologists’ decision making support in emergency telecardiology.MethodsWe create a new cloud and pervasive computing based 12-lead Electrocardiography (ECG) service to realize ubiquitous 12-lead ECG tele-diagnosis.ResultsThis developed service enables ECG to be transmitted and interpreted via mobile phones. That is, tele-consultation can take place while the patient is on the ambulance, between the onsite clinicians and the off-site senior cardiologists, or among hospitals. Most importantly, this developed service is convenient, efficient, and inexpensive.ConclusionsThis cloud computing based ECG tele-consultation service expands the traditional 12-lead ECG applications onto the collaboration of clinicians at different locations or among hospitals. In short, this service can greatly improve medical service quality and efficiency, especially for patients in rural areas. This service has been evaluated and proved to be useful by cardiologists in Taiwan.

The 50th ISCEV international symposium abstract issue

The 50th ISCEV Symposium will be celebrated in the stunning Spanish city of Valencia. The contrasting mediaeval and modern beauty of Valencia is the perfect backdrop for this special 50th anniversary. A rich and diverse programme highlights the international collaboration of scientists and clinicians across many disciplines sharing an interest in visual electrophysiology. The scientific programme ranges from translational studies of therapeutics in animal models of genetic eye disease to innovative applications that correlate behaviour, structural and functional imaging at macro and cellular levels. The integral role of clinical visual electrophysiology in the practice of clinical medicine is brought to the fore in the popular clinical case session, which for the first time is included within the body of the symposium. This is an opportunity for participants to present their most challenging clinical cases and benefit from the cumulative experience of the ISCEV membership. The symposium will inaugurate the new state of the art lecture auditorium of the Colegio Oficial de Medicos de Valencia. Our hosts at the Colegio Oficial de Medicos de Valencia are responsible for upholding standards and promoting ethical medical practice. The annual ISCEV Clinical Electrophysiology of Vision Course, coordinated by Professor Graham Holder, will make use of the clinical and teaching facilities of the Fundacion Oftalmologicadel Mediterraneo, FOM. FOM is an international research and clinical centre, which was inaugurated in 2005 with the aims of promoting scientific and technical research in ophthalmic medicine, developing new diagnostic and therapeutic techniques and becoming a required reference of all innovating ocular treatment at national and international level. We congratulate Paul Sieving, MD, PhD, Director of NEI, National Institute of Health, USA, who C. Vilela Neurophysiology Department, Clinica 9 de Octubre, Valencia, Spain

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need for clear interpretation of the test results is apparent. However, for many disease genes, including the breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction of tests results in the detection of a genetic variant for which disease association is not known. The finding of an "unclassified" variant (UV)/variant of uncertain significance (VUS) complicates genetic test reporting and counseling. As these variants are individually rare, a large collaboration of researchers and clinicians will facilitate studies to assess their association with cancer predisposition. It was with this in mind that the ENIGMA consortium (www.enigmaconsortium.org) was initiated in 2009. The membership is both international and interdisciplinary, and currently includes more than 100 research scientists and clinicians from 19 countries. Within ENIGMA, there are presently six working groups focused on the following topics: analysis, clinical, database, functional, tumor histopathology, and mRNA splicing. ENIGMA provides a mechanism to pool resources, exchange methods and data, and coordinately develop and apply algorithms for classification of variants in BRCA1 and BRCA2. It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes.

Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.

Inappropriate Medication in a National Sample of US Elderly Patients Receiving Home Health Care

With substantial morbidity and functional impairment, older patients receiving home health care are especially susceptible to the adverse effects of unsafe or ineffective medications. Home health agencies’ medication review and reconciliation services, however, provide an added mechanism of medication safety that could offset this risk. To estimate the prevalence of potentially inappropriate medications (PIMs) among current elderly home health patients in the US. Cross-sectional analysis using data from the 2007 National Home and Hospice Care Survey. 3,124 home health patients 65 years of age or older on at least one medication. Prevalence and classification of PIM use and the association between PIM use and patient and home health agency characteristics.Key Results In 2007, 38% (95% CI: 36-41) of elderly home health patients were taking at least one PIM. Polypharmacy was associated with an increased risk of PIM use; admission to home health care from a nursing home or other sub-acute facility (compared to admission from the community) and a payment source other than Medicare or Medicaid were associated with a decreased risk of PIM use. The prevalence of PIM use in older home health patients is high despite potential mechanisms for improved safety. Policies to improve the review and reconciliation processes within home health agencies and to improve physician-home health clinician collaboration are likely needed to lower the prevalence of PIM use in older home health patients.

Case study: A patient–clinician collaboration that identified and prioritized evidence gaps and stimulated research development

ObjectiveTo assess the effect of a research prioritization partnership that aimed to influence the research agenda relating to urinary incontinence (UI). Study Design and SettingResearch often neglects important gaps in existing evidence so that decisions must be made about treatments without reliable evidence of their effectiveness. In 2007–2009, a United Kingdom partnership of eight patient and 13 clinician organizations identified and prioritized gaps in the evidence that affect everyday decisions about treatment of UI. The top 10 prioritized research questions were published and reported to research funders in 2009. A year later, new research or funding applications relating to the prioritized topics were identified through reviews of research databases and consultation with funding organizations, elements of the research community, and organizations that participated in the partnership. ResultsSince dissemination of the prioritized topics, five studies are known to have been funded, three in development; five new systematic reviews are under way, one is being updated; five questions are under consideration by a national research commissioning body. ConclusionThe partnership successfully developed and used a methodology for identification and prioritization of research needs through patient–clinician consensus. Prioritization through consensus can be effective in informing the development of clinically useful research.

What Can Large Simple Trials Do for Psychiatry?

What Can Large Simple Trials Do for Psychiatry?

Part 2: International Collaboration in Resuscitation Science

With the founding of the International Liaison Committee on Resuscitation (ILCOR) in 1992, an international collaboration of clinicians and researchers was convened to identify, evaluate, and interpret the most valid resuscitation science. This supplement to Circulation (simultaneously published in Resuscitation ) presents the results of ILCOR's most recent and extensive efforts to reach consensus on interpretation of resuscitation science and treatment recommendations. ILCOR continues to strive to reach a common goal of universal resuscitation guidelines. Building on the 2005 International Consensus on CPR and ECC Science With Treatment Recommendations ,1,2 the 2010 International Consensus Conference held in Dallas, Texas, in February 2010 involved 313 experts from 30 countries. During the 2 years leading up to this conference, over 350 worksheet authors reviewed several thousand relevant, peer-reviewed publications to address more than 400 specific resuscitation questions, each in standard PICO (Population, Intervention, Comparison, Outcome) format. The experts reviewed, summarized, and categorized several thousand relevant, peer-reviewed publications into level of evidence grids, proposed consensus on science statements, and where possible, provided evidence-based treatment recommendations.3 Key knowledge gaps were also identified and documented, with the purpose of stimulating further research in those areas. Ultimately scientific consensus was achieved by continuous discussion and debate in multiple face-to-face meetings and webinars, and finally through focused discussions of the evidence evaluation worksheets during the 3 days of the International Consensus Conference. Particular attention was paid to recognizing applicable advances in resuscitation science, while managing potential conflicts of interest among participants and identifying topics that lacked good evidence to support or change current practice. The year 2010 marks the 50th Anniversary of cardiopulmonary resuscitation (CPR). The original reports of rescue breathing,4 closed-chest compressions,5 and the effective combination of the two6 created an immediate demand for CPR training and resuscitation guidelines. In …

Part 2: International collaboration in resuscitation science: 2010 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science with Treatment Recommendations

With the founding of the International Liaison Committee on Resuscitation (ILCOR) in 1992, an international collaboration of clinicians and researchers was convened to identify, evaluate, and interpret the most valid resuscitation science. This supplement to Circulation (simultaneously published in Resuscitation ) presents the results of ILCOR's most recent and extensive efforts to reach consensus on interpretation of resuscitation science and treatment recommendations. ILCOR continues to strive to reach a common goal of universal resuscitation guidelines. Building on the 2005 International Consensus on CPR and ECC Science With Treatment Recommendations ,1,2 the 2010 International Consensus Conference held in Dallas, Texas, in February 2010 involved 313 experts from 30 countries. During the 2 years leading up to this conference, over 350 worksheet authors reviewed several thousand relevant, peer-reviewed publications to address more than 400 specific resuscitation questions, each in standard PICO (Population, Intervention, Comparison, Outcome) format. The experts reviewed, summarized, and categorized several thousand relevant, peer-reviewed publications into level of evidence grids, proposed consensus on science statements, and where possible, provided evidence-based treatment recommendations.3 Key knowledge gaps were also identified and documented, with the purpose of stimulating further research in those areas. Ultimately scientific consensus was achieved by continuous discussion and debate in multiple face-to-face meetings and webinars, and finally through focused discussions of the evidence evaluation worksheets during the 3 days of the International Consensus Conference. Particular attention was paid to recognizing applicable advances in resuscitation science, while managing potential conflicts of interest among participants and identifying topics that lacked good evidence to support or change current practice. The year 2010 marks the 50th Anniversary of cardiopulmonary resuscitation (CPR). The original reports of rescue breathing,4 closed-chest compressions,5 and the effective combination of the two6 created an immediate demand for CPR training and resuscitation guidelines. In …

Louisiana State University Health Sciences Center School of Medicine at New Orleans

Louisiana State University Health Sciences Center School of Medicine at New Orleans

Update of the Portuguese Familial Hypercholesterolaemia Study

The main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH). A total of 1340 blood samples were collected from 482 index patients and 858 relatives with the collaboration of clinicians from several hospitals all over the country. The genetic diagnosis of FH in this study is based on the analyses of three genes: LDLR, APOB and PCSK9. In the last 10 years, the Portuguese FH Study identified a genetic defect in a total of 171 index patients, corresponding to an overall of 48% of the total received cases with clinical diagnosis of FH. Although the Simon Broome FH register criteria have been adapted to our study, 59 patients that did not fulfil all criteria were included in the study and a mutation causing disease was identified in 8 of these patients. In the LDLR gene were found 80 different mutations in 165 unrelated index patients: 159 heterozygous, 3 compounds heterozygous and 3 true homozygous. The APOB p.Arg3527Gln and the PCSK9 p.Asp374His mutation were not found in any of our patients since our last report, but a novel mutation in the APOB gene, predicted to cause a single amino acid substitution p.Tyr3560Cys, was found in one patient. The cascade screening in relatives of these 171 index patients allowed the identification and genetic characterization of a total of 404 FH patients in Portugal.

A model for integrating clinical care and basic science research, and pitfalls of performing complex research projects for addressing a clinical challenge

The collaboration of clinicians with basic science researchers is crucial for addressing clinically relevant research questions. In order to initiate such mutually beneficial relationships, we propose a model where early career clinicians spend a designated time embedded in established basic science research groups, in order to pursue a postgraduate qualification. During this time, clinicians become integral members of the research team, fostering long term relationships and opening up opportunities for continuing collaboration. However, for these collaborations to be successful there are pitfalls to be avoided. Limited time and funding can lead to attempts to answer clinical challenges with highly complex research projects characterised by a large number of “clinical” factors being introduced in the hope that the research outcomes will be more clinically relevant. As a result, the complexity of such studies and variability of its outcomes may lead to difficulties in drawing scientifically justified and clinically useful conclusions. Consequently, we stress that it is the basic science researcher and the clinician's obligation to be mindful of the limitations and challenges of such multi-factorial research projects. A systematic step-by-step approach to address clinical research questions with limited, but highly targeted and well defined research projects provides the solid foundation which may lead to the development of a longer term research program for addressing more challenging clinical problems. Ultimately, we believe that it is such models, encouraging the vital collaboration between clinicians and researchers for the work on targeted, well defined research projects, which will result in answers to the important clinical challenges of today.

Identifying and prioritizing uncertainties: patient and clinician engagement in the identification of research questions

To arrive at an agreed, prioritized ranking of treatment uncertainties in asthma that need further research, by developing a collaboration of patients, carers and clinicians, facilitated by the James Lind Alliance Working Partnership between Asthma UK and the British Thoracic Society. A four-step procedure: (1) establish a collaborative Working Partnership; (2) identify and collect treatment uncertainties by using a patient survey and analysing existing systematic reviews, clinical guidelines and query-answering services; (3) categorize uncertainties; and (4) convene a workshop using a nominal group process to establish a ranked prioritization of treatment uncertainties in asthma. Agreement and rankings were reached for 10 treatment uncertainties. The highest was given to the uncertainty surrounding the adverse effects of inhaled and oral steroids. The top three priorities dealt with clinical management issues, where uncertainties still exist, namely concerns about the side effects of inhaled and oral steroids, how to manage asthma when other illnesses exist or how to rely on personal decisions in an ever-changing illness (self-management). The key outcome is the generation of a prioritized list of treatment uncertainties in asthma, agreed by a collaboration of patients and health professionals, to inform the commissioning of new research. Such a large number of patient-identified treatment uncertainties had not previously been identified in the literature, an indication perhaps that asthma self-management is a neglected research area. Whether the results have an influence of research funding decisions is not yet known.

Significance of biological resource collection and tumor tissue bank creation

Progress in the molecular oncology of gastrointestinal carcinomas depends on high quality cancer tissues for research. Recent acceleration on new technological platforms as well as the "omics" revolution increases the demands on tissues and peripheral blood for research at the DNA, mRNA and protein levels. Tissue bank creation emerges as a priority. Tumor tissue banks are facilities that are organized to collect, store and distribute samples of tumor and normal tissue for further use in basic and translational cancer research. The samples are generally obtained immediately after excision, prior to fixation, to ensure optimal preservation of proteins and nucleic acids. It is possible for surgeons or pathologists to collect fresh tissue prospectively during their routine dissection procedures. Most tissue banks are "project-driven" tumor banks, which are specialized collections of tumor samples on which their research is based. Systematic collection of all available tumor tissue is much rarer. High quality tissue banks need the collaboration of clinicians and basic scientists, but also the informed consent of patients and ethical approval. Through the standard operation procedure, snap frozen fresh tissue collection, storage and quality control for cryopreserved tissues are the pivotal factors on tissue bank construction and maintaining. The purpose of the tissue bank creation is enhancing the quality and speed on both the basic and translational research on gastrointestinal cancer. The quality assurance and quality control are handled based on reviewing HE staining slides or touch imprint cytology by pathologists.

Guidance for Occupational Health Services in Medical Centers

Guidance for Occupational Health Services in Medical Centers

The Pitfalls of Profoundly Effective Analgesic Therapies

In essentially all areas of pain medicine, treatments with improved effectiveness are needed. Though gains have been made in recent years, suffering from acute postoperative pain, low back pain, cancer-related pain, and pain from other causes remains problematic. On the other hand, both science and industry are approaching the problem with ever more sophisticated techniques. Though not currently in our armamentarium, it seems likely that at some point we will be faced with the situation where profoundly effective broad-spectrum analgesic therapies are available to our patients. Depending on their mechanisms of action, there may be significant downsides to the use of these new medications. The objective of this report was to explore the consequences of developing profoundly effective analgesic agents. This report reviews some of the recent advancements in our march toward developing profoundly effective analgesics and some of the pitfalls we might anticipate will be associated with these agents. Specifically, the issue of pain as an essential protective mechanism is explored. The causes and consequences of inherited neuropathies associated with pain insensitivity are reviewed. The ability to appreciate internal and external stimuli as painful is critical to humans. The loss of this ability has profound adverse consequences which in their extreme can be life threatening. Significant social issues might arise from the availability of profoundly effective analgesics. A structure for managing the introduction of these agents into clinical practice is suggested. By anticipating the likely clinical properties of profoundly effective analgesics we place ourselves in best position to guide their development, assure their safety, and oversee their use. The early collaboration of industry, scientists, clinicians, and regulatory authorities may be the best course.

Misconceptions, Challenges, Uncertainty, and Progress in Guideline Recommendations

Although the quality of clinical practice guidelines has improved over the last decade, current guideline systems have limitations that reduce their validity and limit their acceptance. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) working group, a worldwide collaboration of guideline developers, methodologists, and clinicians, has constructed a system for developing guidelines that addresses these shortcomings. The system includes a transparent and rigorous methodology for rating the quality of evidence, an explicit balancing of benefits and harms of healthcare interventions, an explicit acknowledgement of the values and preferences that underlie the recommendations, and whether the intervention represents a wise use of resources. These four elements determine whether a recommendation is strong or weak. A guideline panel offers strong recommendations when virtually all informed patients would choose the same management strategy. Weak recommendations imply that choices will differ across the range of patient values and preferences. The GRADE system has been tested in multiple practice settings and for a large spectrum of questions, refined and re-evaluated to ensure that it captures the complex issues involved in evidence assessment and grading recommendations while maintaining simplicity and practicality. Many guideline organizations and medical societies have endorsed the system and adopted it for their guideline processes.

Schizophrenia: From brain morphology to psychopathology

Ten years ago, Velakoulis, the author of a study cited in the present article, was appreciating that the role of functional imaging in schizophrenia research would involve collaboration of clinicians, imaging specialists, and neuropsychologists, and the past year's literature proves his point. Our review shows that structural and functional imaging in schizophrenia is still alive and well. In the past year, it has focused on changes in "at-risk" and first-episode schizophrenia populations and has been used by researchers to characterize phenotypes of patients with schizophrenia prior to including them in genetic research. A decade ago, O'Donovan and Owen were cautiously optimistic about future advances in finding susceptibility genes for schizophrenia, and this year's literature, including their review, proves that the massive efforts of research in the genetics of schizophrenia have started to pay off. An almost-obscure area 10 years ago, pharmacogenetics of schizophrenia is well represented in the past year and gives hope to the practicing clinicians who are eagerly waiting to understand patients' variability in antipsychotic drug response. These and additional areas are included in our review of schizophrenia literature in the past year.

Evidence-Based Rationale Supports a National Periodontal Disease Screening Program

The evidence-based decision-making process that led to the inclusion of periodontal diseases (PD) in the newly revised Austrian National Periodic Health Examination (PHE) is described. Although intraoral inspection by physicians had already been a routine part of the PHE, obvious signs of PD, which are highly prevalent in Austria, have been largely ignored. The objectives of this periodontal screening (PS) program are to direct persons with a series of identifiable risk factors to seek proper care. The PS program development methodology was based on 2 factors: a systematic review of evidence-based publications that establish correlations between individual risk factors or multifactorial risk models with an increased susceptibility to progression of PD, and a selection of brief and cost-effective screening interventions that could be administered by nondental clinicians such as general physicians. The final screening model is a 3-step intervention: The final PS model within the Austrian PHE is based on a wealth of data justifying an evidence-based intervention. The Austrian population is likely to benefit in many ways from the intervention through increased awareness of PD and through a collaboration of medical and dental clinicians in their prevention.

A perspective on transfusion‐related acute lung injury two years after the Canadian Consensus Conference

A perspective on transfusion‐related acute lung injury two years after the Canadian Consensus Conference