ActiPso: Definition of activity types for psoriasis disease. A novel marker for an advanced disease classification

Abstract Purpose of Review We critically evaluate the future potential of machine learning (ML), deep learning (DL), and artificial intelligence (AI) in precision medicine. The goal of this work is to show progress in ML in digital health, to exemplify future needs and trends, and to identify any essential prerequisites of AI and ML for precision health. Recent Findings High-throughput technologies are delivering growing volumes of biomedical data, such as large-scale genome-wide sequencing assays; libraries of medical images; or drug perturbation screens of healthy, developing, and diseased tissue. Multi-omics data in biomedicine is deep and complex, offering an opportunity for data-driven insights and automated disease classification. Learning from these data will open our understanding and definition of healthy baselines and disease signatures. State-of-the-art applications of deep neural networks include digital image recognition, single-cell clustering, and virtual drug screens, demonstrating breadths and power of ML in biomedicine. Summary Significantly, AI and systems biology have embraced big data challenges and may enable novel biotechnology-derived therapies to facilitate the implementation of precision medicine approaches.

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Changing The Definition of The Kilogram: Insights For Psychiatric Disease Classification

Philosophy Psychiatry & Psychology ◽

10.1353/ppp.2019.0046 ◽

2019 ◽

Vol 26 (4) ◽

pp. E-97-E-108

Author(s):

Hanna M. van Loo ◽

Jan-Willem Romeijn ◽

Kenneth S. Kendler

Keyword(s):

Disease Classification ◽

Psychiatric Disease ◽

Definition Of

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Recent advances in understanding cholangiocarcinoma

Faculty Reviews ◽

10.12703/b/9-15 ◽

2020 ◽

Vol 9 ◽

Author(s):

Pedro Luiz Serrano Uson Junior ◽

Mansi Arora ◽

James M Bogenberger ◽

Mitesh J Borad

Keyword(s):

Bile Ducts ◽

Recent Progress ◽

Advanced Disease ◽

Personalized Therapy ◽

Intrahepatic Bile Ducts ◽

Recent Advances ◽

Extrahepatic Bile Ducts ◽

Molecular Landscape ◽

Definition Of

The definition of cholangiocarcinoma (CCA) encompasses all tumors originating in the epithelium of the bile ducts, including the intrahepatic bile ducts (ICCA) and extrahepatic bile ducts (ECCA). The incidence of ICCA and ECCA has increased in the last few decades, and molecular advances in both entities have brought understanding of their differences and allowed treatment advances aimed at personalized therapy. In this review, we discuss recent progress in the molecular landscape of CCAs, emerging treatment biomarker-guided strategies, and future insights into the management of advanced disease.

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Echohysterosalpingography: pros and cons. A systematic review

Kuban Scientific Medical Bulletin ◽

10.25207/1608-6228-2021-28-3-112-129 ◽

2021 ◽

Vol 28 (3) ◽

pp. 112-129

Author(s):

A. V. Pomortsev ◽

A. N. Sencha ◽

O. V. Astafyeva ◽

Yu. Yu. Dyachenko ◽

M. A. Matosyan

Keyword(s):

Imaging Techniques ◽

Disease Classification ◽

Cochrane Library ◽

Fallopian Tubes ◽

Value Evaluation ◽

Published Evidence ◽

Background Therapy ◽

Uterine Scar ◽

Diagnostic Research ◽

Definition Of

Background. Infertility is becoming ever more pressing a problem by year in Russia and worldwide. Tubal-peritoneal infertility is most frequent, with the prevalence of 42.5-80.5% in various estimates. Echohysterosalpingography is considered the today’s “gold standard” in tubal-peritoneal infertility diagnosis in women. This method is known to possess a series of limitations and adverse consequences due to painful sensations during and after check-ups that psychologically afflict women.Objectives. An overview of current methods for inspecting fallopian tubes in reproductively impaired patients to inform promising diagnostic research.Methods. Publications were mined and analysed in the PubMed, eLibrary, Web of Science, Cochrane Library and Cyberleninka electronic databases. The query terms were: echohysterosalpingography [эхогистеросальпингография], echohysterography [эхогистерография], infertility [бесплодие], pregnancy planning [планирование беременности], fallopian patency [проходимость маточных труб], ultrasonic diagnosis [ультразвуковая диагностика], submucous myomatous node [субмукозный миоматозный узел], incompetent uterine scar [несостоятельный рубец на матке], niche [ниша]. The topic selected was female infertility, particularly, the use of echohysterosalpingography in fallopian diagnosis in reproductively impaired women.Results. The review covers 52 sources of the total 118 analysed. Current published evidence and its review identify a notable success of imaging techniques in the fallopian tube diagnosis in women with reproductive problems. The continually developing echohysterosalpingography technique is considered more promising for routine use. Techniques gain more value in analyses of implantation failures. The main challenges in current radiodiagnosis and monitoring of fallopian lesions at a background therapy are the inspection standardisation, disease classification, imaging diagnostic accuracy and prognostic value evaluation in patients with reproductive loss and infertility.Conclusion. The prospective routes of research comprise the definition of optimal check-up terms, echohysterography and echohysterosalpingography diagnostic criteria descriptiveness, improving prognosis in the carrying of pregnancy and treatment efficacy control. A timely and accurate diagnosis of uterus and fallopian tubes is of paramount importance to sustain the women’s reproductive health.

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Eye Movement Biomarkers Allow for the Definition of Phenotypes in Gaucher Disease

10.21203/rs.3.rs-37355/v1 ◽

2020 ◽

Author(s):

Aimee Donald ◽

Chong Yew Tan ◽

Anupam Chakrapani ◽

Derralyn Hughes ◽

Reena Sharma ◽

...

Keyword(s):

Clinical Trials ◽

Gaucher Disease ◽

Saccadic Eye Movements ◽

Disease Classification ◽

Clinical Feature ◽

Enzyme Replacement ◽

Clinical Endpoints ◽

Definition Of ◽

Type 3

Abstract Background Neurological forms of Gaucher disease, the inherited disorder of b-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with Enzyme Replacement Therapy (ERT), however, molecules which cross the blood-brain barrier are still under investigation. Clinical trials of such therapeutics require robust, reproducible clinical endpoints to demonstrate efficacy and clear phenotypic definitions to identify suitable patients for inclusion in trials. The single consistent clinical feature in all patients with neuronopathic disease is the presence of a supranuclear saccadic gaze palsy, in the presence of Gaucher disease this finding serves as diagnostic of ‘type 3’ Gaucher disease. MethodsWe undertook a study to evaluate saccadic eye movements in Gaucher patients and to assess the role of the EyeSeeCam in measuring saccades. The EyeSeeCam is a video oculography device which was used to run a protocol of saccade measures. We studied 39 patients with non-neurological Gaucher disease (type 1), 21 patients with type 3 (neurological) disease and a series of 35 healthy controls. Mean saccade parameters were compared across disease subgroups. ResultsWe confirmed the saccadic abnormality in patients with type 3 Gaucher disease andidentified an unexpected subgroup of patients with type 1 Gaucher disease who demonstrated significant saccade parameter abnormalities. These patients also showed subtle neurological findings and shared aGBA1 variant. ConclusionsThis striking novel finding of a potentially attenuated type 3 Gaucher phenotype associated with a specific GBA1 variant and detectable saccadic abnormality prompts review of current disease classification. Further, this finding highlights the broad spectrum of neuronopathic Gaucher phenotypes relevant when designing inclusion criteria for clinical trials.

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MINOCA: a heterogenous group of conditions associated with myocardial damage

Heart ◽

10.1136/heartjnl-2020-318269 ◽

2021 ◽

pp. heartjnl-2020-318269

Author(s):

Trisha Singh ◽

Andrew R Chapman ◽

Marc R Dweck ◽

Nicholas L Mills ◽

David E Newby

Keyword(s):

Myocardial Infarction ◽

Obstructive Coronary Artery Disease ◽

Myocardial Damage ◽

Disease Classification ◽

Heterogenous Group ◽

Diagnostic Confusion ◽

Artery Disease ◽

Universal Definition ◽

Definition Of

Myocardial infarction with non-obstructive coronary arteries (MINOCA) was first described over 80 years ago. The term has been widely and inconsistently used in clinical practice, influencing various aspects of disease classification, investigation and management. MINOCA encompasses a heterogenous group of conditions that include both atherosclerotic and non-atherosclerotic disease resulting in myocardial damage that is not due to obstructive coronary artery disease. In many ways, it is a term that describes a moment in the diagnostic pathway of the patient and is arguably not a diagnosis. Central to the definition is also the distinction between myocardial infarction and injury. The universal definition of myocardial infarction distinguishes acute myocardial infarction, including those with MINOCA, from other causes of myocardial injury by the presence of clinical evidence of ischaemia. However, these ischaemic features are often non-specific causing diagnostic confusion, and can create difficulties for patient management and follow-up. The purpose of this review is to summarise our current understanding of MINOCA and highlight important issues relating to the diagnosis, investigation and management of patients with MINOCA.

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P59 Supporting student nurses/trainee nurse associates during insight visits to a paediatric rheumatology service: the development of a student workbook

Rheumatology ◽

10.1093/rheumatology/kez416.026 ◽

2019 ◽

Vol 58 (Supplement_4) ◽

Author(s):

Catherine Salvesani ◽

Liz Smith ◽

Nikki Camina

Keyword(s):

Conflicts Of Interest ◽

Student Nurses ◽

Paediatric Rheumatology ◽

Disease Classification ◽

Nurse Specialist ◽

Clinical Nurse ◽

Effective Learning ◽

Clinical Nurse Specialists ◽

Methodical Approach ◽

Definition Of

Abstract Background As clinical nurse specialists (CNS), we must be able to support student nurses (SN) and trainee nursing associates (TNA) to help them to develop their professional competencies. We achieve this by offering insight visits to SN/TNA during their placement on our day care unit. SN/TNAs are invited to attend the rheumatology service MDT meeting and then observe the nurse-led clinic. We must ensure there is support and oversight of practice supervision to ensure safe and effective learning. We reviewed the insight visits and asked the SN/TNA to complete a questionnaire. Methods The feedback was analysed and a common theme emerged that they would have liked some pre-visit literature to read prior to attending so they could research rheumatological conditions. When explored; this was due to limited knowledge of conditions. A workbook was developed to focus the SN/TNA on the most common conditions; juvenile idiopathica arthritis (JIA) and uveitis. The workbook was adapted from an education workbook for a new clinical nurse specialist to paediatric rheumatology. It offered a structured and methodical approach to the introduction of JIA and uveitis. It guided them to consider the medical definition of the condition, explore the epidemiology and aetiology of the disease, how a diagnosis is made by the use of investigations, disease classification and the subsequent various treatments available. In concludes by prompting the SN/TNA to consider the various roles within a multidisciplinary team (MDT). The workbook also directs to appropriate websites for information gathering. The workbook is then discussed with the SN/TNA at the end of the visit to ensure they developed better knowledge of rheumatological conditions and the role of the CNS within the service. Results The service continues to ask for feedback from all SN/TNA on insight visits and the feedback on the pre-visit workbook is very positive; “The workbook was definitely helpful because I was able to research about the conditions before coming to the insight visit”- Student Nurse A. The workbook begins the foundation of knowledge which the SN/TNA’s then build upon during the insight visit. Conclusion The paediatric rheumatology service has successfully developed an effective workbook which facilitates SN/TNA’s learning during insight visits to the service. The feedback forms are evidence that the CNS are appropriately supporting SN/TNA’s. The development of this tool has aided the structure of insights visits and essentially improved the quality and learning outcomes for the SN/TNA’s. Conflicts of Interest The authors declare no conflicts of interest.

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OP0299 IN RHEUMATOID ARTHRITIS PATIENTS HIGHER NUMBER OF COMORBIDITIES PREDICTS 6-MONTH INSUFFICIENT RESPONSE TO FIRST BIOLOGIC THERAPY AND EVENTUAL CATEGORIZATION OF THE DISEASE AS DIFFICULT-TO-TREAT

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.4110 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 184.2-184

Author(s):

I. Flouri ◽

A. Repa ◽

N. Avgustidis ◽

N. Kougkas ◽

A. Eskitzis ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Disease Activity ◽

Disease Duration ◽

Response To Therapy ◽

Disease Classification ◽

University Hospital ◽

Tnf Inhibitor ◽

Definition Of ◽

The Impact

Background:Difficult-to-treat rheumatoid arthritis (D2T RA) was recently defined by a EULAR study group (1) and, as a disease category it is largely complicated and under-researched. Patient comorbidities may play a significant role in the response to therapy with biologic disease-modifying antirheumatic drugs (bDMARDs) and in the disease classification as D2T RA.Objectives:To evaluate the impact of comorbidities [studied as total Comorbidities Count (CC) and rheumatic disease comorbidity index (RDCI)] on 6-month response to therapy with the first bDMARD in real-world clinical practice and on eventual disease designation as D2T RA.Methods:Prospective study of all RA patients who start any bDMARD in a tertiary centre University Hospital after their consent. All patient comorbidities [among a list of approximately 100 pre-specified major comorbidities] are registered by treating physicians. Response to therapy was defined as achievement of low disease activity or remission (LDA/Rem) according to simplified disease activity index (SDAI) and health assessment questionnaire (HAQ) improvement of ≥ 0.25.D2T RA patient group was defined according to the EULAR definition of D2T RA and was compared to: a/ all other patients and b/ to a sub-group of patients designated as “well-controlled RA” (follow-up ≥2 years and ≥2 visits in the last year in LDA/Rem).Logistic regression models were used to adjust for the potential confounding of age, sex, disease duration, seropositivity, number of previous synthetic DMARDs, type of 1st bDMARD initiated (TNF inhibitor vs. non-TNF inhibitor), co-administered methotrexate and corticosteroids (yes/no), baseline SDAI and HAQ and year of therapy start.Results:Analysis included 501 RA patients who received a total of 1098 bDMARD treatments. At 1st bDMARD treatment start, patients (women: 81%) had a median (IQR) age: 60 (51-68) years, disease duration: 5.4 (3-11) years, SDAI: 36 (28-46), HAQ: 1.0 (0.5-1.5), CC: 3 (2-6) και RDCI: 2 (0-3).In adjusted analyses, total comorbidity count (CC) ≤1 (vs ≥ 2) was predicting LDA/Rem at 6 months of therapy [OR (95%CI) = 4.1 (1.5-11), p=0.005], while RDCI=0 (vs. ≥ 1) was predicting HAQ improvement ≥ 0.25 [OR (95% CI) = 2.6 (1.2-6.7), p=0.046].During 2614 patient-years of follow-up, the disease in 98 patients could be classified as “D2T RA”, while 127 patients had “well-controlled RA”. Baseline independent predictors for D2T RA compared to all other patients were RDCI ≥ 1 (vs. 0) [OR = 3.3 (1.7-9.4), p = 0.024], female sex [OR =3.1 (1.01-9.5)] and age [OR = 0.97 (0.94-0.99)]. Multivariable analyses for predictors of “D2T” compared to “well-controlled” RA yielded similar results.Conclusion:In RA patients starting the first bDMARD treatment, a higher number of comorbidities at baseline is an independent predictor of lower 6-month response to therapy and final disease classification as “difficult-to-treat” RA.References:[1]Nagy G, Roodenrijs NM, Welsing PM, Kedves M, Hamar A, van der Goes MC, et al. EULAR definition of difficult-to-treat rheumatoid arthritis. Ann Rheum Dis. 2021 Jan;80(1):31–5.Acknowledgements:Pancretan Health Association and Special Account for Research Grants (ELKE) – University of Crete.Disclosure of Interests:None declared.

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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01637-9 ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Aimee Donald ◽

Chong Y. Tan ◽

Anupam Chakrapani ◽

Derralyn A. Hughes ◽

Reena Sharma ◽

...

Keyword(s):

Clinical Trials ◽

Gaucher Disease ◽

Saccadic Eye Movements ◽

Disease Classification ◽

Clinical Feature ◽

Enzyme Replacement ◽

Clinical Endpoints ◽

Definition Of ◽

Type 3

Abstract Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with enzyme replacement therapy, however, molecules which cross the blood–brain barrier are still under investigation. Clinical trials of such therapeutics require robust, reproducible clinical endpoints to demonstrate efficacy and clear phenotypic definitions to identify suitable patients for inclusion in trials. The single consistent clinical feature in all patients with neuronopathic disease is the presence of a supranuclear saccadic gaze palsy, in the presence of Gaucher disease this finding serves as diagnostic of ‘type 3’ Gaucher disease. Methods We undertook a study to evaluate saccadic eye movements in Gaucher patients and to assess the role of the EyeSeeCam in measuring saccades. The EyeSeeCam is a video-oculography device which was used to run a protocol of saccade measures. We studied 39 patients with non-neurological Gaucher disease (type 1), 21 patients with type 3 (neurological) disease and a series of 35 healthy controls. Mean saccade parameters were compared across disease subgroups. Results We confirmed the saccadic abnormality in patients with type 3 Gaucher disease and identified an unexpected subgroup of patients with type 1 Gaucher disease who demonstrated significant saccade parameter abnormalities. These patients also showed subtle neurological findings and shared a GBA1 variant. Conclusions This striking novel finding of a potentially attenuated type 3 Gaucher phenotype associated with a specific GBA1 variant and detectable saccadic abnormality prompts review of current disease classification. Further, this finding highlights the broad spectrum of neuronopathic Gaucher phenotypes relevant when designing inclusion criteria for clinical trials.

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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

10.21203/rs.3.rs-37355/v2 ◽

2020 ◽

Author(s):

Aimee Donald ◽

Chong Yew Tan ◽

Anupam Chakrapani ◽

Derralyn Hughes ◽

Reena Sharma ◽

...

Keyword(s):

Clinical Trials ◽

Gaucher Disease ◽

Saccadic Eye Movements ◽

Disease Classification ◽

Clinical Feature ◽

Enzyme Replacement ◽

Clinical Endpoints ◽

Definition Of ◽

Type 3

Abstract Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with Enzyme Replacement Therapy (ERT), however, molecules which cross the blood-brain barrier are still under investigation. Clinical trials of such therapeutics require robust, reproducible clinical endpoints to demonstrate efficacy and clear phenotypic definitions to identify suitable patients for inclusion in trials. The single consistent clinical feature in all patients with neuronopathic disease is the presence of a supranuclear saccadic gaze palsy, in the presence of Gaucher disease this finding serves as diagnostic of ‘type 3’ Gaucher disease. Methods We undertook a study to evaluate saccadic eye movements in Gaucher patients and to assess the role of the EyeSeeCam in measuring saccades. The EyeSeeCam is a video oculography device which was used to run a protocol of saccade measures. We studied 39 patients with non-neurological Gaucher disease (type 1), 21 patients with type 3 (neurological) disease and a series of 35 healthy controls. Mean saccade parameters were compared across disease subgroups. Results We confirmed the saccadic abnormality in patients with type 3 Gaucher disease and identified an unexpected subgroup of patients with type 1 Gaucher disease who demonstrated significant saccade parameter abnormalities. These patients also showed subtle neurological findings and shared a GBA1 variant. Conclusions This striking novel finding of a potentially attenuated type 3 Gaucher phenotype associated with a specific GBA1 variant and detectable saccadic abnormality prompts review of current disease classification. Further, this finding highlights the broad spectrum of neuronopathic Gaucher phenotypes relevant when designing inclusion criteria for clinical trials.

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