BackgroundTransthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide, there are descriptions of several endemic foci, such as in Majorca, Balearic Islands, Spain. We aimed at describing a contemporary series of TTR-FAP patients in Son Llàtzer Hospital in Majorca from an epidemiological point of view in order to report their main clinical and laboratory characteristics.MethodsA retrospective, observational study was performed. Medical records from adult patients diagnosed with TTR-FAP from a single hospital were reviewed.ResultsOut of a total of 107 cases, 75 subjects were included: asymptomatic carriers (52.3%) and symptomatic patients (47.7%). Mean age was 58.3 years at the time of the study, and 50.7% were men. Mean age at diagnosis was 49.8 years. In addition, 42 patients (39.2%) had received a liver transplant, and time to liver transplantation was on average 29.56 months from the initial diagnosis. They all had the Val30Met mutation. The organs of the nervous system were those most frequently impaired (57.3%), and 83.9% of the symptomatic patients were fully ambulant (stage 1). Family history was reported in 69.3% of the cases, with the patient’s father being the most commonly affected relative. Comorbidities were frequent, with high blood pressure being the most common.ConclusionsOur findings provide additional information on this condition and are useful for describing the demographic features, clinical presentation, diagnosis, and natural course of TTR-FAP in Majorca.

No abstract

No abstract

The significant impact of COVID-19 worldwide has made it necessary to develop tools to identify patients at high risk of severe disease and death. This work aims to validate the RIM Score-COVID in the SEMI-COVID-19 Registry. The RIM Score-COVID is a simple nomogram with high predictive capacity for in-hospital death due to COVID-19 designed using clinical and analytical parameters of patients diagnosed in the first wave of the pandemic. The nomogram uses five variables measured on arrival to the emergency department (ED): age, sex, oxygen saturation, C-reactive protein level, and neutrophil-to-platelet ratio. Validation was performed in the Spanish SEMI-COVID-19 Registry, which included consecutive patients hospitalized with confirmed COVID-19 in Spain. The cohort was divided into three time periods: T1 from February 1 to June 10, 2020 (first wave), T2 from June 11 to December 31, 2020 (second wave, pre-vaccination period), and T3 from January 1 to December 5, 2021 (vaccination period). The model’s accuracy in predicting in-hospital COVID-19 mortality was assessed using the area under the receiver operating characteristics curve (AUROC). Clinical and laboratory data from 22,566 patients were analyzed: 15,976 (70.7%) from T1, 4,233 (18.7%) from T2, and 2,357 from T3 (10.4%). AUROC of the RIM Score-COVID in the entire SEMI-COVID-19 Registry was 0.823 (95%CI 0.819–0.827) and was 0.834 (95%CI 0.830–0.839) in T1, 0.792 (95%CI 0.781–0.803) in T2, and 0.799 (95%CI 0.785–0.813) in T3. The RIM Score-COVID is a simple, easy-to-use method for predicting in-hospital COVID-19 mortality that uses parameters measured in most EDs. This tool showed good predictive ability in successive disease waves. Supplementary Information The online version contains supplementary material available at 10.1007/s11739-023-03200-3.