Search results for "Undiagnosed"
showing 5 items of 5 documents
An unusual case of sudden cardiac death during sexual intercourse
2018
The most common cause of sudden death during sexual intercourse in adults is heart disease, and it is usually the male, whereas the death of the woman is unusual. Generally, in these cases, death occurs as a result of cardiovascular disease. The authors report an unusual case of the sudden death of a young woman during sexual intercourse. The post-mortem investigations (autopsy, cardiac nuclear magnetic resonance and cardiac histology) demonstrated a previously undiagnosed arrhythmogenic right ventricular cardiomyopathy. The terminal cause of death was a malignant arrhythmia from arrhythmogenic right ventricular cardiomyopathy. This is the first report of a case in which sexual activity ca…
A mathematical model by route of transmission and fibrosis progression to estimate undiagnosed individuals with HCV in different Italian regions.
2022
Abstract Background Although an increase in hepatitis C virus (HCV) prevalence from Northern to Southern Italy has been reported, the burden of asymptomatic individuals in different Italian regions is currently unknown. Methods A probabilistic approach, including a Markov chain for liver disease progression, was applied to estimate current HCV viraemic burden. The model defined prevalence by geographic area using an estimated annual historical HCV incidence by age, treatment rate, and migration rate from the Italian National database. Viraemic infection by age group was estimated for each region by main HCV transmission routes of individuals for stage F0–F3 (i.e. patients without liver cirr…
Estimated prevalence of undiagnosed HCV infected individuals in Italy: A mathematical model by route of transmission and fibrosis progression
2021
Abstract Background The universal treatment of diagnosed patients with chronic HCV infection has been widely conducted in Italy since 2017. However, the pool of individuals diagnosed but yet to be treated in Italy has been estimated to end around 2025, leaving a significant proportion of infected individuals undiagnosed/without care. Estimates of this population are currently unknown. Methods A probabilistic modelling approach was applied to estimate annual historical HCV incident cases by their age-group (0–100 years) distribution from available literature and Italian National database (1952 to October 2019). Viraemic infection rates were modelled on the main infection routes in Italy: peo…
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
2017
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to impr…
Making sense of big data in health research: {T}owards an {EU} action plan
2016
Genome medicine 8(1), 71 (2016). doi:10.1186/s13073-016-0323-y