Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil.

Background:  Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).

Objective:  To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).

Changes in functional capacity of heart failure patients following a cardiac rehabilitation program.

Purpose: To evaluate the effectiveness of a cardiac rehabilitation (CR) program on functional capacity in patients with heart failure at a high-complexity hospital in the city of Cali during the period from 2017 to 2023.

Methods: A retrospective descriptive study that included 127 patients over 18 years of age diagnosed with heart failure, who completed 36 rehabilitation sessions with complete records of the 6-minute walk test (6MWT), anthropometric and physiological measurements at the beginning and end of the program. Categorical variables were summarized as absolute frequencies and percentages.

Predictive Modeling of Heart Rate from Respiratory Signals at Rest in Young Healthy Humans.

Biological signals such as respiration (RSP) and heart rate (HR) are oscillatory and physiologically coupled, maintaining homeostasis through regulatory mechanisms. This report models the dynamic relationship between RSP and HR in 45 healthy volunteers at rest. Cross-correlation between RSP and HR was computed, along with regression analysis to predict HR from RSP and its first-order time derivative in continuous signals.