Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data mining, in the form of cluster analysis and visualisation, was performed on a database containing deidentified health records of 1.28 million patients across 3 major hospitals in Singapore, in a bid to improve the diagnostic process for patients who are living with an undiagnosed rare disease, specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH). On a baseline of 4 patients, we identified 2 additional patients with potential diagnosis of Fabry disease, suggesting a potential 50% increase in diagnosis. Similarly, we identified > 12,000 individuals who fulfil the clinical and laboratory criteria for FH but had not been diagnosed previously. This proof-of-concept study showed that it is possible to perform mining on EHR data albeit with some challenges and limitations.

Comportamiento de los focos rábicos en la provincia La Habana / Behavior of rabies outbreaks in Havana province

Fundamento: para la salud pública y el desarrollo del mundo, las enfermedades como Dengue, Zika, Chikingunya, Fiebre amarrilla y rabia son reemergentes la mayoría de ellas son infecciones que han cruzado la barrera que existe entre las especies animales y los seres humanos. Objetivo: analizar el comportamiento de los focos rábicos en la provincia La Habana. Métodos: se realizó un estudio observacional descriptivo retrospectivo de los casos de especie animal positivos a rabia, examinados en el Centro Provincial de Higiene, Epidemiología y Microbiología de La Habana, desde el 2013 hasta el 2016. Se incluyó 51 muestras de cerebros de carnívoros, quirópteros y herbívoros estudiados en la provincia. Se empleó la técnica de inmunofluorescencia directa para el diagnóstico de rabia. La descripción de la positividad se realizó a partir de los sistemas de información Excel. Resultados: el municipio Boyeros con mayor índice de positividad seguido de Arroyo Naranjo, desplaza la rabia canina de casos positivos a la rabia por mangosta. Conclusiones: el mayor reporte de casos se notificó en el municipio periférico Boyeros ubicado al sur de la provincia La Habana y limítrofe con la provincia Artemisa.

Background: for the public health and world development diseases such as Dengue, Zika, Chikungunya, Yellow fever and rabies are re-emergent and most of them are infections that have crossed the barrier that exists between animal species and humans. Objective: to analyze the behavior of rabies outbreaks in Havana province, from 2013 to 2016. Methods: a retrospective descriptive, observational study of rabies-positive animal species examined at the Provincial Center for Hygiene, Epidemiology and Microbiology of Havana was conducted from 2013 to 2016. 51 samples of brains from carnivores, bats, and herbivores studied in the province were included. The direct immunofluorescence technique was used for the diagnosis of rabies. The description of the positivity was carried out using the Excel information systems. Results: the municipality of Boyeros with the highest positivity index followed by Arroyo Naranjo, displaces canine rabies cases by mongoose. Conclusions: the largest report of cases was reported in Boyeros geographically located in the south Havana province and bordering with Artemisa province.