scholarly journals Development and Validation of a Bayesian Network for Supporting the Etiological Diagnosis of Uveitis

2021 ◽  
Vol 10 (15) ◽  
pp. 3398
Author(s):  
Yvan Jamilloux ◽  
Nicolas Romain-Scelle ◽  
Muriel Rabilloud ◽  
Coralie Morel ◽  
Laurent Kodjikian ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Training Dataset ◽  
Test Dataset ◽  
Etiological Diagnosis ◽  
Diagnostic Work ◽  
Development And Validation ◽  
Epidemiological Characteristics ◽  
Incident Cases ◽  
Work Up ◽  
Selection Of

The etiological diagnosis of uveitis is complex. We aimed to implement and validate a Bayesian belief network algorithm for the differential diagnosis of the most relevant causes of uveitis. The training dataset (n = 897) and the test dataset (n = 154) were composed of all incident cases of uveitis admitted to two internal medicine departments, in two independent French centers (Lyon, 2003–2016 and Dijon, 2015–2017). The etiologies of uveitis were classified into eight groups. The algorithm was based on simple epidemiological characteristics (age, gender, and ethnicity) and anatomoclinical features of uveitis. The cross-validated estimate obtained in the training dataset concluded that the etiology of uveitis determined by the experts corresponded to one of the two most probable diagnoses in at least 77% of the cases. In the test dataset, this probability reached at least 83%. For the training and test datasets, when the most likely diagnosis was considered, the highest sensitivity was obtained for spondyloarthritis and HLA-B27-related uveitis (76% and 63%, respectively). The respective specificities were 93% and 54%. This algorithm could help junior and general ophthalmologists in the differential diagnosis of uveitis. It could guide the diagnostic work-up and help in the selection of further diagnostic investigations.

scholarly journals The development and validation of prognostic models for overall survival in the presence of missing data in the training dataset: a strategy with a detailed example

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Kara-Louise Royle ◽  
David A. Cairns
Keyword(s):  
Overall Survival ◽  
Missing Data ◽  
Prognostic Model ◽  
Prognostic Index ◽  
Risk Groups ◽  
Prognostic Models ◽  
Training Dataset ◽  
Validation Process ◽  
Test Dataset ◽  
Development And Validation

Abstract Background The United Kingdom Myeloma Research Alliance (UK-MRA) Myeloma Risk Profile is a prognostic model for overall survival. It was trained and tested on clinical trial data, aiming to improve the stratification of transplant ineligible (TNE) patients with newly diagnosed multiple myeloma. Missing data is a common problem which affects the development and validation of prognostic models, where decisions on how to address missingness have implications on the choice of methodology. Methods Model building The training and test datasets were the TNE pathways from two large randomised multicentre, phase III clinical trials. Potential prognostic factors were identified by expert opinion. Missing data in the training dataset was imputed using multiple imputation by chained equations. Univariate analysis fitted Cox proportional hazards models in each imputed dataset with the estimates combined by Rubin’s rules. Multivariable analysis applied penalised Cox regression models, with a fixed penalty term across the imputed datasets. The estimates from each imputed dataset and bootstrap standard errors were combined by Rubin’s rules to define the prognostic model. Model assessment Calibration was assessed by visualising the observed and predicted probabilities across the imputed datasets. Discrimination was assessed by combining the prognostic separation D-statistic from each imputed dataset by Rubin’s rules. Model validation The D-statistic was applied in a bootstrap internal validation process in the training dataset and an external validation process in the test dataset, where acceptable performance was pre-specified. Development of risk groups Risk groups were defined using the tertiles of the combined prognostic index, obtained by combining the prognostic index from each imputed dataset by Rubin’s rules. Results The training dataset included 1852 patients, 1268 (68.47%) with complete case data. Ten imputed datasets were generated. Five hundred twenty patients were included in the test dataset. The D-statistic for the prognostic model was 0.840 (95% CI 0.716–0.964) in the training dataset and 0.654 (95% CI 0.497–0.811) in the test dataset and the corrected D-Statistic was 0.801. Conclusion The decision to impute missing covariate data in the training dataset influenced the methods implemented to train and test the model. To extend current literature and aid future researchers, we have presented a detailed example of one approach. Whilst our example is not without limitations, a benefit is that all of the patient information available in the training dataset was utilised to develop the model. Trial registration Both trials were registered; Myeloma IX-ISRCTN68454111, registered 21 September 2000. Myeloma XI-ISRCTN49407852, registered 24 June 2009.

scholarly journals Parasitic hypereosinophilia in childhood: a diagnostic challenge

2018 ◽  
Vol 10 (1) ◽  
pp. 2018034
Author(s):  
Roberto Antonucci ◽  
Nadia Vacca ◽  
Giulia Boz ◽  
Cristian Locci ◽  
Rosanna Mannazzu ◽  
...  
Keyword(s):  
Eosinophil Count ◽  
Hypereosinophilic Syndrome ◽  
Igg Antibodies ◽  
Diagnostic Challenge ◽  
Etiological Diagnosis ◽  
Maximum Value ◽  
History Of ◽  
Diagnostic Work ◽  
Patient’S History ◽  
Work Up

Severe hypereosinophilia (HE) in children is rare, and its etiological diagnosis is challenging. We describe a case of a 30-month-old boy, living in a rural area, who was admitted to our Clinic with a 7-day history of fever and severe hypereosinophilia. A comprehensive diagnostic work-up could not identify the cause of this condition. On day 6, the rapidly increasing eosinophil count (maximum value of 56,000/mm3), the risk of developing hypereosinophilic syndrome, and the patient’s history prompted us to undertake an empiric treatment with albendazole.The eosinophil count progressively decreased following treatment. On day 13, clinical condition and hematological data were satisfactory, therefore the treatment was discontinued and the patient was discharged. Three months later, anti-nematode IgG antibodies were detected in patient serum, thus establishing the etiological diagnosis. In conclusion, an empiric anthelmintic treatment seems to be justified when parasitic hypereosinophilia is strongly suspected, and other causes have been excluded.

scholarly journals Age-related aspects of differential diagnosis of acute cough in children and adults

2018 ◽  
Vol 28 (4) ◽  
pp. 461-468
Author(s):  
I. V. Leshchenko ◽  
S. A. Tsar’kova ◽  
A. D. Zherebtsov
Keyword(s):  
Differential Diagnosis ◽  
Anatomical Location ◽  
Pathological Changes ◽  
Review Of Literature ◽  
Acute Cough ◽  
Age Related ◽  
Common Causes ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Cough is one of the most common causes of seeking the primary medical care, especially during the autumn and the spring. This article is a review of literature  aimed at differential diagnosis of possible causes of acute cough in children and  adults. Given a vast majority of diseases associated with cough, differential diagnosis  have to consider several issues. The key issue is cough duration and possible  anatomical location of the pathological changes. An algorithm of differential diagnosis  of acute cough in children and adults and description of most common diseases  associated with acute cough are given in the review. Further diagnostic work-up  should be driven by the duration of cough as soon as the acute cough could be first  manifestation of a chronic disease.

scholarly journals The spectrum of paroxysmal dyskinesias

2019 ◽  
Vol 14 (3) ◽  
pp. FNL26 ◽  
Author(s):  
Raquel Manso-Calderón
Keyword(s):  
Differential Diagnosis ◽  
Loss Of Consciousness ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Appropriate Treatment ◽  
Key Points ◽  
Paroxysmal Disorders ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Paroxysmal dyskinesias (PxD) comprise a group of heterogeneous syndromes characterized by recurrent attacks of mainly dystonia and/or chorea, without loss of consciousness. PxD have been classified according to their triggers and duration as paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia and paroxysmal exertion-induced dyskinesia. Of note, the spectrum of genetic and nongenetic conditions underlying PxD is continuously increasing, but not always a phenotype–etiology correlation exists. This creates a challenge in the diagnostic work-up, increased by the fact that most of these episodes are unwitnessed. Furthermore, other paroxysmal disorders, included those of psychogenic origin, should be considered in the differential diagnosis. In this review, some key points for the diagnosis are provided, as well as the appropriate treatment and future approaches discussed.

Das Speicherverhalten von 67Ga bei Erkrankungen der großen Kopfspeicheldrüsen

1987 ◽  
Vol 26 (02) ◽  
pp. 79-82
Author(s):  
H. Maier ◽  
H. Bihl
Keyword(s):  
Differential Diagnosis ◽  
Prospective Study ◽  
Salivary Glands ◽  
67Ga Scintigraphy ◽  
Pleomorphic Adenomas ◽  
Diagnostic Work ◽  
A Prospective Study ◽  
Work Up ◽  
Diagnostic Work Up

ln a prospective study (59 patients) the pattern of 67Ga-uptake of the large salivary glands (LSG) in the course of typical disorders of the glands was investigated. Inflammatory and granulomatous disorders revealed - dependent on their acuity - an identical pattern of Ga-uptake. Extraglandular uptake was found in some instances of tuberculosis, sarcoidosis and myoepithelial sialadenitis. Among the benign LSG tumors all cystadeno- lymphomas showed intensive uptake while all pleomorphic adenomas did not. In 75% of the malignant LSG tumors Ga-uptake was pathologically increased, particularly in all adenocarcinomas of the series. 67Ga scintigraphy seems to be useful in the follow-up of inflammatory and granulomatous LSG disorders and in the differential diagnosis of pleomorphic adenoma versus cystadenolymphoma. Extraglandular uptake may give valuable hints for diagnostic work-up.

Reliability and Value of Diagnostic Lymphography in Carcinoma of the Sigmoid, Rectum and Anus.

1975 ◽  
Vol 61 (5) ◽  
pp. 465-472
Author(s):  
Renato Musumeci ◽  
Roberto Doci ◽  
Leandro Gennari ◽  
Raffaele Petrillo ◽  
Maurizio Valente ◽  
...  
Keyword(s):  
Rectal Cancer ◽  
Nodal Metastases ◽  
Patients With Cancer ◽  
Therapeutic Program ◽  
Diagnostic Work ◽  
Work Up ◽  
Radio Chemotherapy ◽  
Diagnostic Work Up ◽  
Selection Of

From 1963 to 1973, 253 patients with cancer of the sigmoid, rectum and anus underwent diagnostic lymphography at the Istituto Nazionale Tumori of Milan. In 218 patients lymphography was performed as part of the initial diagnostic work-up, while in 35 it was done during the follow up period, after surgery. The accuracy of radio-histological correlation was 95 %. This confirms the reliability of diagnostic lymphography and its clinical usefulness. In view of these results, this diagnostic tool is essential in the initial evaluation in patients with carcinoma of the anus, because lymphography was superior (28 %) to the clinical inspection (6 %) in the evaluation of the inguino-iliac lymph nodes. Lymphography is also useful in rectal cancer since it permits, in case of nodal metastases, selection of a group of patients in whom the therapeutic program should be revised. The exam is useless in cancer of the sigmoid. In the small group of patients who had lymphography in the follow up period, this technique was the only to show, in symptomatic patients, the presence of pelvic and/or para-aortic nodal metastases. Lymphography is also useful in these patients for the evaluation of the results of the radio/chemotherapy on involved nodes.

Omenn's Syndrome: Differential Diagnosis in Infants with Erythroderma and Immunodeficiency

2001 ◽  
Vol 4 (3) ◽  
pp. 237-245 ◽  
Author(s):  
Irene Scheimberg ◽  
Peter H. Hoeger ◽  
John I. Harper ◽  
Brian Lake ◽  
Marian Malone
Keyword(s):  
Differential Diagnosis ◽  
Skin Biopsy ◽  
Basal Layer ◽  
Failure To Thrive ◽  
Graft Versus Host ◽  
Biopsy Specimens ◽  
Clinical Differential Diagnosis ◽  
Diagnostic Work ◽  
Dermal Infiltrate ◽  
Work Up

The clinical differential diagnosis of erythroderma plus immunodeficiency and failure to thrive in neonates includes graft-versus-host-disease (GVHD), Omenn's syndrome (OS), and Netherton's syndrome (NS). In addition to immunological investigations, skin biopsy is an important part of the diagnostic work-up. We reviewed biopsies from 25 patients that were retrieved from the archives of the Department of Histopathology at Great Ormond Street, of which 9 were OS, 11 were GVHD, and 5 were NS. Five patients had two biopsy specimens. Both OS and GVHD show dyskeratosis and basal vacuolation. OS always shows acanthosis and almost always parakeratosis. GVHD shows a flat epidermis and rarely parakeratosis. OS and GVHD can be distinguished after immunohistochemistry for LCA and CD68 by the relative proportions of lymphocytes and macrophages in the dermal infiltrate (predominantly lymphocytes in OS, relatively more macrophages in GVHD). Skin biopsy diagnosis of OS is difficult before 6 weeks of age because the features are poorly developed. NS can be distinguished by psoriasiform acanthosis, thickening of the basement membrane, prominent dermal blood vessels, absence of dyskeratosis, and basal layer vacuolation, and a dermal infiltrate in which lymphocytes and macrophages are equally represented. Thus, the main difference between GVHD and OS is in the proportion of lymphocytes and macrophages in the infiltrate on immunohistochemical staining for LCA and CD68, while OS and NS may be distinguished on H&E morphology alone.

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