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.

The role of multimodality imaging in diagnosing acute perimyocarditis secondary to Crohn's disease.

BACKGROUND: Acute perimyocarditis is a rare extra-intestinal manifestation in Crohn's disease which required multimodality imaging to confirm the diagnosis. Here we present a case of acute perimyocarditis as the first presentation of Crohn's disease. To date, this is the first case presentation reporting the use of 18F-FDG PET/CT Scan for diagnosing such condition. CASE PRESENTATION: A 25-year-old male presented to our hospital with severe persistent pleuritic sharp left-sided chest pain. This was his second hospital admission in the past 4 months for chest pain and diarrhea. At the first hospitalization, he was diagnosed with viral perimyocarditis and irritable bowel syndrome. Laboratory findings, electrocardiogram, and cardiac magnetic resonance imaging results confirm the diagnostic of perimyocarditis. Virology, bacteriology, parasitology, and autoimmune evaluations were unremarkable. Colonoscopy, colorectal biopsy, and 18FGD PET findings confirmed manifestation of perimyocarditis, Crohn's disease, and negative for sarcoidosis. CONCLUSIONS: Looking at the overall clinical picture and investigation results of colonoscopy, colorectal biopsy findings, as well as multi-modality imaging with echocardiography, 18FDG PET-scan and CMRI, the patient was diagnosed to have perimyocarditis attending Chron's disease flare up as a rare extra-intestinal manifestation.

'Balanced ischaemia' on ECG in dual territory STEMI.

Culprit lesion identification in ST elevation myocardial infarction (STEMI) is often guided by electrocardiogram (ECG) changes. However, in the setting of multi-vessel coronary artery occlusion, this can be challenging. We describe an interesting case of dual territory STEMI with unanticipated ECG changes that bring forth the concept of 'balanced ischaemia'. These seemingly bizarre findings are well explained using the fundamentals of electrocardiography reinstating its relevance in modern day cardiology.

Watch-PAT versus level III device in diagnosing sleep disordered breathing in first myocardial infarction.

BACKGROUND: Watch-PAT 200, a novel portable sleep device worn on the wrist, has been validated against polysomnography. Although sleep disordered breathing (SDB) screening is recommended in patients with cardiovascular disease, no study has reported a comparison of results from Watch-PAT 200 and level III portable devices. METHODS: Patients (n = 140) admitted with a first ST-segment elevation myocardial infarction (STEMI) participated in a hospital-based sleep study using the Watch-PAT 200 and a level III portable device (Embletta Gold) simultaneously within five days of admission. SDB was defined as an apnea-hypopnea index (AHI) of >15 events/h. RESULTS: The left ventricular ejection fraction was normal (≥50%), impaired (30%-49%) and poor (<30%) in 66 (47.1%), 71 (50.7%), and three (2.2%) patients, respectively. Among 116 patients with a successful paired sleep study, the prevalence of SDB was 53.5% (Watch-PAT 200) and 51.7% (Embletta Gold). The agreement of AHI measured by the two devices was moderately good, with an intra-class correlation value of 0.72 (95% confidence interval, 0.62-0.80; P < .01). Agreement between the two devices in diagnosing at least mild (AHI ≥5), moderate-to-severe (AHI ≥15) and severe (AHI ≥30) SDB was 78% (kappa 0.47; P < .01), 77% (kappa 0.55; P < .01) and 80% (kappa 0.49; P < .01), respectively. At a 15-month follow-up, SDB status based on the two devices was associated with the occurrence of adverse cardiovascular events in 48.3% and 44.8%, respectively (P = .56). CONCLUSION: We found a high prevalence of SDB in patients presenting with a first STEMI. Agreement between two portable sleep devices was moderately good.