scholarly journals Results of the Seventh Scientific Workshop of ECCO: Precision medicine in IBD - what, why, and how

Author(s):  
Claudio Fiocchi ◽  
Gabriele Dragoni ◽  
Dimitrios Iliopoulos ◽  
Konstantinos Katsanos ◽  
Vicent Hernandez Ramirez ◽  
...  

Abstract Many diseases that affect modern humans fall in the category of complex diseases, thus called because they result from a combination of multiple aetiological and pathogenic factors. Regardless of the organ or system affected, complex diseases present major challenges in diagnosis, classification, and management. Current forms of therapy are usually applied in an indiscriminate fashion based on clinical information, but even the most advanced drugs only benefit a limited number of patients and to a variable and unpredictable degree. This ‘one measure does not fit all’ situation has spurred the notion that therapy for complex disease should be tailored to individual patients or groups of patients, giving rise to the notion of ‘precision medicine’ [PM]. Inflammatory bowel disease [IBD] is a prototypical complex disease where the need for PM has become increasingly clear. This prompted the European Crohn’s and Colitis Organisation to focus the 7 th Scientific Workshop on this emerging theme. The articles in this special issue of the Journal address the various complementary aspects of PM in IBD, including what is PM; why it is needed and how it can be used; how PM can contribute to prediction and prevention of IBD; how IBD PM can aid in prognosis and improve response to therapy; and the challenges and future directions of PM in IBD. This first article of this series is structured on three simple concepts [what, why, and how] and addresses the definition of PM, discusses the rationale for the need of PM in IBD, and outlines the methodology required to implement PM in IBD in a correct and clinically meaningful way.

Cancers ◽  
2021 ◽  
Vol 13 (17) ◽  
pp. 4324
Author(s):  
Karin P. S. Langenberg ◽  
Eleonora J. Looze ◽  
Jan J. Molenaar

Over the last years, various precision medicine programs have been developed for pediatric patients with high-risk, relapsed, or refractory malignancies, selecting patients for targeted treatment through comprehensive molecular profiling. In this review, we describe characteristics of these initiatives, demonstrating the feasibility and potential of molecular-driven precision medicine. Actionable events are identified in a significant subset of patients, although comparing results is complicated due to the lack of a standardized definition of actionable alterations and the different molecular profiling strategies used. The first biomarker-driven trials for childhood cancer have been initiated, but until now the effect of precision medicine on clinical outcome has only been reported for a small number of patients, demonstrating clinical benefit in some. Future perspectives include the incorporation of novel approaches such as liquid biopsies and immune monitoring as well as innovative collaborative trial design including combination strategies, and the development of agents specifically targeting aberrations in childhood malignancies.


2015 ◽  
Vol 22 (2) ◽  
pp. 290-298 ◽  
Author(s):  
Chih-Wei Huang ◽  
Shabbir Syed-Abdul ◽  
Wen-Shan Jian ◽  
Usman Iqbal ◽  
Phung-Anh (Alex) Nguyen ◽  
...  

Abstract Objective The aim of this study is to analyze and visualize the polymorbidity associated with chronic kidney disease (CKD). The study shows diseases associated with CKD before and after CKD diagnosis in a time-evolutionary type visualization. Materials and Methods Our sample data came from a population of one million individuals randomly selected from the Taiwan National Health Insurance Database, 1998 to 2011. From this group, those patients diagnosed with CKD were included in the analysis. We selected 11 of the most common diseases associated with CKD before its diagnosis and followed them until their death or up to 2011. We used a Sankey-style diagram, which quantifies and visualizes the transition between pre- and post-CKD states with various lines and widths. The line represents groups and the width of a line represents the number of patients transferred from one state to another. Results The patients were grouped according to their states: that is, diagnoses, hemodialysis/transplantation procedures, and events such as death. A Sankey diagram with basic zooming and planning functions was developed that temporally and qualitatively depicts they had amid change of comorbidities occurred in pre- and post-CKD states. Discussion This represents a novel visualization approach for temporal patterns of polymorbidities associated with any complex disease and its outcomes. The Sankey diagram is a promising method for visualizing complex diseases and exploring the effect of comorbidities on outcomes in a time-evolution style. Conclusions This type of visualization may help clinicians foresee possible outcomes of complex diseases by considering comorbidities that the patients have developed.


1996 ◽  
Vol 35 (01) ◽  
pp. 41-51 ◽  
Author(s):  
F. Molino ◽  
D. Furia ◽  
F. Bar ◽  
S. Battista ◽  
N. Cappello ◽  
...  

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.


2018 ◽  
Vol 11 (4) ◽  
pp. 87-98
Author(s):  
Abdullah Alamri

Healthcare systems have evolved to become more patient-centric. Many efforts have been made to transform paper-based patient data to automated medical information by developing electronic healthcare records (EHRs). Several international EHRs standards have been enabling healthcare interoperability and communication among a wide variety of medical centres. It is a dual-model methodology which comprises a reference information model and an archetype model. The archetype is responsible for the definition of clinical concepts which has limitations in terms of supporting complex reasoning and knowledge discovery requirements. The objective of this article is to propose a semantic-mediation architecture to support semantic interoperability among healthcare organizations. It provides an intermediate semantic layer to exploit clinical information based on richer ontological representations to create a “model of meaning” for enabling semantic mediation. The proposed model also provides secure mechanisms to allow interoperable sharing of patient data between healthcare organizations.


Author(s):  
Laura Evangelista ◽  
Pietro Zucchetta ◽  
Lucia Moletta ◽  
Simone Serafini ◽  
Gianluca Cassarino ◽  
...  

AbstractThe aim of the present systematic review is to examine the role of fluorodeoxyglucose (FDG) positron emission tomography (PET) associated with computed tomography (CT) or magnetic resonance imaging (MRI) in assessing response to preoperative chemotherapy or chemoradiotherapy (CRT) for patients with borderline and resectable pancreatic ductal adenocarcinoma (PDAC). Three researchers ran a database query in PubMed, Web of Science and EMBASE. The total number of patients considered was 488. The most often used parameters of response to therapy were the reductions in the maximum standardized uptake value (SUVmax) or the peak standardized uptake lean mass (SULpeak). Patients whose SUVs were higher at the baseline (before CRT) were associated with a better response to therapy and a better overall survival. SUVs remaining high after neoadjuvant therapy correlated with a poor prognosis. Available data indicate that FDG PET/CT or PET/MRI can be useful for predicting and assessing response to CRT in patients with resectable or borderline PDAC.


2021 ◽  
pp. 112067212110221
Author(s):  
Daniele Giovanni Ghiglioni ◽  
Anna Maria Zicari ◽  
Giuseppe Fabio Parisi ◽  
Giuseppe Marchese ◽  
Cristiana Indolfi ◽  
...  

Vernal keratoconjunctivitis (VKC) and atopic keratoconjunctivitis (AKC) are potentially severe and complex disease in its management among the various allergic eye diseases. In this regard, studies clarified the etiopathogenetic mechanisms. The workup should be multidisciplinary. The treatment includes topical and systemic medications with anti-inflammatory and immunosuppressant activity. However, a definition of nationally- and internationally-shared diagnostic protocols would also be needed and validated access to therapeutic options of proven safety and efficacy to avoid the use of galenic preparations, up to now still essential in the management of moderate-severe VKC. Finally, recognizing VKC and AKC, among rare diseases, at a national and international level would be an essential step to allow the management of VKC with adequate timings and settings within the National Health System.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Shinjo Yada

Abstract Cancer tissue samples obtained via biopsy or surgery were examined for specific gene mutations by genetic testing to inform treatment. Precision medicine, which considers not only the cancer type and location, but also the genetic information, environment, and lifestyle of each patient, can be applied for disease prevention and treatment in individual patients. The number of patient-specific characteristics, including biomarkers, has been increasing with time; these characteristics are highly correlated with outcomes. The number of patients at the beginning of early-phase clinical trials is often limited. Moreover, it is challenging to estimate parameters of models that include baseline characteristics as covariates such as biomarkers. To overcome these issues and promote personalized medicine, we propose a dose-finding method that considers patient background characteristics, including biomarkers, using a model for phase I/II oncology trials. We built a Bayesian neural network with input variables of dose, biomarkers, and interactions between dose and biomarkers and output variables of efficacy outcomes for each patient. We trained the neural network to select the optimal dose based on all background characteristics of a patient. Simulation analysis showed that the probability of selecting the desirable dose was higher using the proposed method than that using the naïve method.


2021 ◽  
Vol 30 (4) ◽  
pp. S28-S35
Author(s):  
Andrew Fishburn ◽  
Nicola Fishburn

Thyroid cancer is a complex disease requiring management by a large multidisciplinary team. The number of patients with a diagnosis of thyroid cancer is significantly increasing year-on-year, and traditional models of consultant-led follow up are no longer sustainable. Although nurse-led cancer follow-up clinics are becomining increasingly common, thyroid cancer nurse-led follow-up clinics are rare. An excellent understanding of the disease, treatment and management of risk of disease recurrence is essential for safe patient care, and is discussed in this article. The clinic discussed uses the skill set of head and neck nurse specialists, including psychological support, coping strategies for long-term side effects of treatment and non-medical prescribing. A patient survey of the service revealed high levels of patient satisfaction and a desire to continue face-to-face consultations rather than telephone clinics.


Insects ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 169
Author(s):  
Federico Lessio ◽  
Alberto Alma

This paper reviews the existing predictive models concerning insects and mites harmful to grapevine. A brief conceptual description is given on the definition of a model and about different types of models: deterministic vs. stochastics, continuous vs. discrete, analytical vs. computer-based, and descriptive vs. data-driven. The main biological aspects of grapevine pests covered by different types of models are phenology, population growth and dynamics, species distribution, and invasion risk. A particular emphasis is put on forecasting epidemics of plant disease agents transmitted by insects with sucking-piercing mouthparts. The most investigated species or groups are the glassy-winged sharpshooter Homalodisca vitripennis (Germar) and other vectors of Xylella fastidiosa subsp. fastidiosa, a bacterium agent of Pierce’s disease; the European grape berry moth, Lobesia botrana (Denis and Schiffermuller); and the leafhopper Scaphoideus titanus Ball, the main vector of phytoplasmas agents of Flavescence dorée. Finally, the present and future of decision-support systems (DSS) in viticulture is discussed.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S123-S123
Author(s):  
Preethi Yeturu ◽  
Jorge P Parada ◽  
Maressa Santarossa ◽  
Laurie Labuszewski ◽  
Jenna Lopez ◽  
...  

Abstract Background Clostridioides difficile can cause a severe infectious colitis and is often associated with significant morbidity and mortality. C. difficile infection (CDI) is defined as the presence of diarrhea plus a positive stool test, whereas C. difficile colonization is defined as a positive stool test in the absence of diarrhea or the presence of diarrhea attributable to causes other than CDI. Widespread use of stool polymerase chain reaction (PCR) testing, especially within the first 3 days of admission, has become common at our institution and has been associated with increased number of positive C. difficile tests results. However, C. difficile colonization rates may be 15% or higher. Oral (PO) vancomycin (vanc) is first line therapy for the treatment of CDI. We sought to evaluate the appropriateness of use of PO vanc in patients who tested positive for C. difficile via stool PCR within 3 days of admission. Methods We reviewed the clinical history, presence of diarrhea, risk factors for diarrhea, treatment and use of an infectious disease (ID) consultation for all patients 18 years of age or older found to test positive for C. difficile by PCR on stool assays during the first 3 days of admission from 07/01/18 to 12/31/18. Results A total of 228 patients met inclusion criteria. 183 (80%) received PO vanc while 45 (20%) did not. 131 (71.6%) of patients who received PO vanc had diarrhea, 39 (21.3%) did not have diarrhea, 13 (7.1%) the presence of diarrhea was unknown. 41 of 143 (28.7%) of patients without ID consults received PO vanc despite not having diarrhea, while 11 of 40 (27.5%) patients seen by ID received PO vanc despite not having diarrhea (p=0.888). Conclusion Most patients who tested positive for C. difficile received PO vanc had documented diarrhea, meeting the definition of CDI. However, over 1 in 5 (21.3%) of patients who received PO vanc did not have diarrhea and may have been colonized rather than have true CDI. ID consultation did not decrease the number of patients without diarrhea who received PO vanc or prevent treatment of colonized patients. This work reveals there may be an opportunity for improvement regarding management of CDI vs. C. difficile colonization which may enhance antibiotic stewardship and the appropriate use of PO vanc. Disclosures All Authors: No reported disclosures


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