Fabry disease (FD) is an X-linked lysosomal disease whose ultimate consequences are the accumulation of sphingolipids and subsequent inflammatory events, mainly at the endothelial level. The outcomes include different nervous system manifestations as well as multiple organ damage. Despite the availability of known biomarkers, early detection of FD remains a medical need. This study aimed to develop an in silico model based on machine learning to identify candidate vascular and nervous system proteins for early FD damage detection at the cellular level. A combined systems biology and machine learning approach was carried out considering molecular characteristics of FD to create a computational model of vascular and nervous system disease. A data science strategy was applied to identify risk classifiers by using 10 K-fold cross-validation. Further biological and clinical criteria were used to prioritize the most promising candidates, resulting in the identification of 36 biomarker candidates with classifier abilities, which are easily measurable in body fluids. Among them, we propose four candidates, CAMK2A, ILK, LMNA, and KHSRP, which have high classification capabilities according to our models (cross-validated accuracy ≥ 90%) and are related to the vascular and nervous systems. These biomarkers show promise as high-risk cellular and tissue damage indicators that are potentially applicable in clinical settings, although in vivo validation is still needed.

Patients with venous thromboembolism (VTE) require immediate treatment with anticoagulants such as acenocoumarol. This multicentre randomised clinical trial evaluated the effectiveness of a dosing pharmacogenetic algorithm versus a standard-of-care dose adjustment at the beginning of acenocoumarol treatment. We included 144 patients with VTE. On the day of recruitment, a blood sample was obtained for genotyping (CYP2C9*2, CYP2C9*3, VKORC1, CYP4F2, APOE). Dose adjustment was performed on day 3 or 4 after the start of treatment according to the assigned group and the follow-up was at 12 weeks. The principal variable was the percentage of patients with an international normalised ratio (INR) within the therapeutic range on day 7. Thirty-four (47.2%) patients had an INR within the therapeutic range at day 7 after the start of treatment in the genotype-guided group compared with 14 (21.9%) in the control group (p = 0.0023). There were no significant differences in the time to achieve a stable INR, the number of INRs within the range in the first 6 weeks and at the end of study. Our results suggest the use of a pharmacogenetic algorithm for patients with VTE could be useful in achieving target INR control in the first days of treatment.

Background and Objectives: Patients with atherosclerotic cardiovascular disease (ASCVD) remain at high risk of recurrent events. REALITY aims to analyse the actual levels of low-density lipoprotein cholesterol (LDL-C), the modalities of lipid-lowering therapies (LLT) used, and ASCVD patient outcomes in a real-world setting in Spain. Methods: REALITY is a retrospective observational study conducted using a healthcare database of 1.8 million patients representative of the Spanish population. The study included 26,976 patients with new or recurrent ASCVD events recruited from 2017 to 2019 and followed up for two years. Results: Management of ASCVD involved the utilisation of high-intensity (53%) or very high-intensity (36%) LLT. After two years, a decrease in total cholesterol (from 228.7 to 176.7 mg/dL), LDL-C (from 126.4 to 99.0 mg/dL), and triglycerides (from 216.7 to 163.7 mg/dL), accompanied by a moderate increase in HDL-C levels was observed. However, LDL-C goals of ESC/EAS guidelines were only reached by a minority of patients. Less than 15% of ASCVD patients achieved their LDL-C goals of <70, as stated in contemporary guidelines (3% if the present <55 mg/dL threshold in the ESC/EAS guidelines is considered). During the follow-up period, 9% of ASCVD patients died and 25% experienced a new ASCVD event. Conclusions: In the REALITY study, most patients did not achieve their target LDL-C goals despite receiving high- or very high-intensity LLT. Increasing the utilisation of extreme LLT is crucial to reducing recurrent ASCVD events and mitigating these patients’ high morbidity and mortality risk.

Smoking remains the leading cause of morbidity and mortality worldwide. Because of its clear influence on cardiovascular and respiratory diseases, it is an important factor in internal medicine consultations. Although the rate of smoking cessation has been increasing in recent years, there is a percentage of patients who continue to smoke because they are unable or unwilling to quit, despite having tried existing pharmacological and non-pharmacological therapies. For this group of patients there are strategies based on interventions aimed at reducing the negative effects of smoking without the need for complete cessation. In this review it is shown that due to the absence of combustion of organic matter in conventional cigarettes, snus, e-cigarettes and heated tobacco products generate significantly lower levels of toxic substances.

RECCMI es una revista de casos clínicos en Medicina Interna que utiliza el software Open Journal Systems 3.1. We present the case of a 46-year-old man who was admitted to the hospital for an episode of acute prostatitis and who, during hospitalization, presented a progressive and severe deterioration of renal function accompanied by hemolytic anemia and severe thrombocytopenia. After an etiological study, a diagnosis of thrombotic microangiopathy was reached. Treatment with eculizumab and plasmapheresis was started with a good response. Presentamos el caso de un varón de 46 años que ingresó por un episodio de prostatitis aguda y durante la hospitalización presentó un deterioro progresivo y severo de la función renal acompañado de anemia hemolítica y trombocitopenia severa. Tras estudio etiológico se llegó al diagnóstico de una microangiopatía trombótica. Se inició tratamiento con eculizumab y plasmaféresis con buena respuesta.