Interpretation Of Clinical Features Research Articles

The analysis of genotype-phenotype correlation in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. It is a clinically diagnosed disease supported by Mediterranean fever gene mutation analysis. This medical record review study aimed to make a new interpretation of clinical features in FMF patients by grouping genetic results based on the classification proposed by the Eurofever/ Paediatric Rheumatology International Trials Organisation. The medical charts of pediatric FMF patients who were diagnosed and followed up regularly at the two pediatric rheumatology units were reviewed. Genetic analysis results were classified as confirmatory and nonconfirmatory as defined in the new Eurofever/ Paediatric Rheumatology International Trials Organisation classification criteria, and they were compared with clinical findings. A total of 216 FMF patients were involved in the study. Group 1 was composed of 133 (61.6%) patients with a confirmatory mutation and group 2 included 83 (38.4%) patients with a nonconfirmatory mutation. All clinical findings were compared, and in terms of fever (P = 0.027), abdominal pain (P = 0.016), arthritis (P = 0.008) and erysipelas-like erythema (ELE; P = 0.003) incidence, there was a significant difference between the two groups. The most common Mediterranean fever gene mutation patterns were homozygous (33.8%) and heterozygous (17.1%) mutations of M694V. The frequency of arthritis and ELE in patients with M694V homozygous mutations was significantly higher than in the other patients (P = 0.002 and P <0.001, respectively). The most frequently observed clinical features of FMF (i.e., fever and abdominal pain) are both observed in patients with confirmatory and nonconfirmatory mutations, ELE and arthritis are more commonly observed in patients with confirmatory mutations.

Biomedical Data Analysis Systems for the Diagnosis of Skin Neoplasms

Introduction. The effectiveness of the diagnosis of malignant neoplasms of the skin remains unsatisfactory due to the complex process of interpretation of clinical features. On the other hand, in the last two decades, noninvasive optical diagnostic methods have been actively developed, for example, digital dermatoscopy for visualization of surface neoplasms and Optical Coherence Tomography (OCT) for obtaining spatial scans. Recent advances in the study of non-invasive diagnostic tools makes this area very promising for research in a clinical condition. Aim. Developing of software modules based on the mathematical framework of texture analysis for biomedical data systems designed for the diagnosis of skin malignant neoplasms. Materials and methods. Algorithms of software modules developed for optical systems of our own design are presented. Algorithms for a dermatoscopic module are based on the Haar transform, Local Binary Patterns and color features. Algorithms for OCT are based on the texture features of Haralick, Tamura, fractal dimension, complex directional field and Markov random field. Studies were conducted on sets of 106 dermatoscopic and 1008 OCT images of various classes of pathologies, including melanoma and Basal Cell Carcinoma (BCC). Results. The values of sensitivity and specificity for the dermatoscopic system and OCT were experimentally obtained. Conclusion. The sensitivity of the dermatoscopic system is 90 % versus 93 % for other authors, as well as the specificity is 86 % versus 80 %. One of the factors of the increase can be considered the introduction of a personalized mode - the addition of comparative features evaluating a difference between a tumor and a normal tissue in the software analysis module. The improved accuracy of OCT is up to 97 % for the diagnosis of melanoma and up to 96 % for the diagnosis of BCC.

Identifying the snake: First scoping review on practices of communities and healthcare providers confronted with snakebite across the world.

BackgroundSnakebite envenoming is a major global health problem that kills or disables half a million people in the world’s poorest countries. Biting snake identification is key to understanding snakebite eco-epidemiology and optimizing its clinical management. The role of snakebite victims and healthcare providers in biting snake identification has not been studied globally.ObjectiveThis scoping review aims to identify and characterize the practices in biting snake identification across the globe.MethodsEpidemiological studies of snakebite in humans that provide information on biting snake identification were systematically searched in Web of Science and Pubmed from inception to 2nd February 2019. This search was further extended by snowball search, hand searching literature reviews, and using Google Scholar. Two independent reviewers screened publications and charted the data.ResultsWe analysed 150 publications reporting 33,827 snakebite cases across 35 countries. On average 70% of victims/bystanders spotted the snake responsible for the bite and 38% captured/killed it and brought it to the healthcare facility. This practice occurred in 30 countries with both fast-moving, active-foraging as well as more secretive snake species. Methods for identifying biting snakes included snake body examination, victim/bystander biting snake description, interpretation of clinical features, and laboratory tests. In nine publications, a picture of the biting snake was taken and examined by snake experts. Snakes were identified at the species/genus level in only 18,065/33,827 (53%) snakebite cases. 106 misidentifications led to inadequate victim management. The 8,885 biting snakes captured and identified were from 149 species including 71 (48%) non-venomous species.ConclusionSnakebite victims and healthcare providers can play a central role in biting snake identification and novel approaches (e.g. photographing the snake, crowdsourcing) could help increase biting snake taxonomy collection to better understand snake ecology and snakebite epidemiology and ultimately improve snakebite management.

Limiting the playing field: does restricting the number of possible diagnoses reduce errors due to diagnosis-specific feature identification?

Diagnostic hypotheses influence the identification of clinical features by medical trainees. This influence is strong enough to lead students to interpret features incorrectly if the initial diagnostic suggestion is incorrect. In the present study, we investigated whether reducing the pool of possible diagnoses at the time of test to a few highly plausible alternatives would focus the search for and interpretation of clinical features on a few alternative diagnoses and, as a result, reduce the influence of an initial diagnostic hypothesis on feature identification. Naive students were taught 10 electrocardiographic (ECG) diagnoses. At test, they were asked to report all features visible on new ECGs. The test ECGs were presented with the suggestion of a tentative diagnosis (either the correct diagnosis or a plausible alternative) under 2 conditions: students were either instructed that the ECG represented one of 3 possible diagnoses (which were explicitly mentioned), or they were instructed that the ECG might represent any of the 10 diagnoses learned. Students' identification of the ECG features was strongly influenced by the diagnostic suggestion. Reducing the number of alternatives available at the time of test did not reduce the impact of a diagnostic suggestion on feature interpretation. Increasing the salience of alternative hypotheses does not reduce the impact of a diagnostic suggestion on the interpretation of clinical features.

Believing is seeing: the influence of a diagnostic hypothesis on the interpretation of clinical features.

Believing is seeing: the influence of a diagnostic hypothesis on the interpretation of clinical features.