Multicenter observational study on the reliability of the HEART score

OBJECTIVE: To rapidly and safely identify the risk of developing acute coronary syndrome in patients with chest pain who present to the emergency department, the clinical use of the History, Electrocardiogram, Age, Risk Factors, and Troponin (HEART) scoring has recently been proposed. This study aimed to assess the inter-rater reliability of the HEART score calculated by a large number of Italian emergency physicians.METHODS: The study was conducted in three academic emergency departments using clinical scenarios obtained from medical records of patients with chest pain. Twenty physicians, who took the HEART score course, independently assigned a score to different clinical scenarios, which were randomly administered to the participants, and data were collected and recorded in a spreadsheet by an independent investigator who was blinded to the study’s aim.RESULTS: After applying the exclusion criteria, 53 scenarios were finally included in the analysis. The general inter-rater reliability was good (kappa statistics [κ], 0.63; 95% confidence interval, 0.57 to 0.70), and a good inter-rater agreement for the high- and low-risk classes (HEART score, 7 to 10 and 0 to 3, respectively; κ, 0.60 to 0.73) was observed, whereas a moderate agreement was found for the intermediate-risk class (HEART score, 4 to 6; κ, 0.51). Among the different items of the HEART score, history and electrocardiogram had the worse agreement (κ, 0.37 and 0.42, respectively).CONCLUSION: The HEART score had good inter-rater reliability, particularly among the high- and low-risk classes. The modest agreement for history suggests that major improvements are needed for objectively assessing this component.

Juvenile hemochromatosis, genetic study and long-term follow up after therapy

BACKGROUND: Hereditary hernochrornatosis [HH] is a very rare disease in Iran and reported cases are all negative for HFE mutation. We report a family affected by severe juvenile hernochrornatosis [JH] with a detailed molecular study of the family members

METHODS: We studied a pedigree with siblings affected by juvenile HH and followed them for 3 years. Microsatellite and gene sequencing analysis was performed for all family members

RESULTS: Two siblings [the proband and his sister, aged 26 and 30 years, respectively] were found to have clinical findings of JH. The proband's brother, who presented with hyperpigmentation, died of probable JH at the age of 24 years. Gene sequencing analysis showed that the proband has a homozygote c.265T>C [p.C89R] HJV mutation + a heterozygote c.884T>C [p.V295A] mutation of HFE

The affected proband's sister presented with the same HJV c.265T>C [p.C89R] homozygote mutation. In addition, we found the HJV C.98-6OG polymorphic variant in both the sister and proband [homozygote]

Sequencing of hepcidin [HAMP], TfR2, and FPN revealed no mutation

CONCLUSION: We have shown that molecular analysis of the HH related gene is a powerful tool for reliable diagnosis of JH and, in conjunction with magnetic resonance imaging [MRI] and noninvasive liver stiffness measurement by elastography, is adequate tool for management and follow up of HH