Study design: Development of an advanced machine learning algorithm for the early diagnosis of Gaucher disease using real-world data

2021 ◽  
Vol 132 (2) ◽  
pp. S91
Author(s):  
Shoshana Revel-Vilk ◽  
Gabriel Chodick ◽  
Varda Shalev ◽  
Noga Gadir
2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Simona D’Amore ◽  
Kathleen Page ◽  
Aimée Donald ◽  
Khadijeh Taiyari ◽  
Brian Tom ◽  
...  

Abstract Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiological understanding, we characterized the course of Gaucher disease and explored the influence of costly innovative medication and other interventions. Retrospective and prospective clinical, laboratory and radiological information including molecular analysis of the GBA1 gene and comprising > 2500 variables were collected systematically into a relational database with banking of collated biological samples in a central bioresource. Data for deep phenotyping and life-quality evaluation, including skeletal, visceral, haematological and neurological manifestations were recorded for a median of 17.3 years; the skeletal and neurological manifestations are the main focus of this study. Results At baseline, 223 of the 250 patients were classified as type 1 Gaucher disease. Skeletal manifestations occurred in most patients in the cohort (131 of 201 specifically reported bone pain). Symptomatic osteonecrosis and fragility fractures occurred respectively in 76 and 37 of all 250 patients and the first osseous events occurred significantly earlier in those with neuronopathic disease. Intensive phenotyping in a subgroup of 40 patients originally considered to have only systemic features, revealed neurological involvement in 18: two had Parkinson disease and 16 had clinical signs compatible with neuronopathic Gaucher disease—indicating a greater than expected prevalence of neurological features. Analysis of longitudinal real-world data enabled Gaucher disease to be stratified with respect to advanced therapies and splenectomy. Splenectomy was associated with an increased hazard of fragility fractures, in addition to osteonecrosis and orthopaedic surgery; there were marked gender differences in fracture risk over time since splenectomy. Skeletal disease was a heavy burden of illness, especially where access to specific therapy was delayed and in patients requiring orthopaedic surgery. Conclusion Gaucher disease has been explored using real-world data obtained in an era of therapeutic transformation. Introduction of advanced therapies and repeated longitudinal measures enabled this heterogeneous condition to be stratified into obvious clinical endotypes. The study reveals diverse and changing phenotypic manifestations with systemic, skeletal and neurological disease as inter-related sources of disability.


Author(s):  
Sercan Demirci ◽  
Durmuş Özkan Şahin ◽  
Ibrahim Halil Toprak

Skin cancer, which is one of the most common types of cancer in the world, is a malignant growth seen on the skin due to various reasons. There was an increase in the number of the cases of skin cancer nearly 200% between 2004-2009. Since the ozone layer is depleting, harmful rays reflected from the sun cannot be filtered. In this case, the likelihood of skin cancer will increase over the years and pose more risks for human beings. Early diagnosis is very significant as in all types of cancers. In this study, a mobile application is developed in order to detect whether the skin spots photographed by using the machine learning technique for early diagnosis have a suspicion of skin cancer. Thus, an auxiliary decision support system is developed that can be used both by the clinicians and individuals. For cases that are predicted to have a risk higher than a certain rate by the machine learning algorithm, early diagnosis could be initiated for the patients by consulting a physician when the case is considered to have a higher risk by machine learning algorithm.


Author(s):  
Petr Berka ◽  
Ivan Bruha

The genuine symbolic machine learning (ML) algorithms are capable of processing symbolic, categorial data only. However, real-world problems, e.g. in medicine or finance, involve both symbolic and numerical attributes. Therefore, there is an important issue of ML to discretize (categorize) numerical attributes. There exist quite a few discretization procedures in the ML field. This paper describes two newer algorithms for categorization (discretization) of numerical attributes. The first one is implemented in the KEX (Knowledge EXplorer) as its preprocessing procedure. Its idea is to discretize the numerical attributes in such a way that the resulting categorization corresponds to KEX knowledge acquisition algorithm. Since the categorization for KEX is done "off-line" before using the KEX machine learning algorithm, it can be used as a preprocessing step for other machine learning algorithms, too. The other discretization procedure is implemented in CN4, a large extension of the well-known CN2 machine learning algorithm. The range of numerical attributes is divided into intervals that may form a complex generated by the algorithm as a part of the class description. Experimental results show a comparison of performance of KEX and CN4 on some well-known ML databases. To make the comparison more exhibitory, we also used the discretization procedure of the MLC++ library. Other ML algorithms such as ID3 and C4.5 were run under our experiments, too. Then, the results are compared and discussed.


2020 ◽  
Author(s):  
Chethan Sarabu ◽  
Sandra Steyaert ◽  
Nirav Shah

Environmental allergies cause significant morbidity across a wide range of demographic groups. This morbidity could be mitigated through individualized predictive models capable of guiding personalized preventive measures. We developed a predictive model by integrating smartphone sensor data with symptom diaries maintained by patients. The machine learning model was found to be highly predictive, with an accuracy of 0.801. Such models based on real-world data can guide clinical care for patients and providers, reduce the economic burden of uncontrolled allergies, and set the stage for subsequent research pursuing allergy prediction and prevention. Moreover, this study offers proof-of-principle regarding the feasibility of building clinically useful predictive models from 'messy,' participant derived real-world data.


2021 ◽  
Vol 9 (8) ◽  
pp. 623-623
Author(s):  
Fangtao Yin ◽  
Hongyu Zhu ◽  
Songlin Hong ◽  
Chen Sun ◽  
Jie Wang ◽  
...  

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