The challenging approach of a young patient with a primary intimal sarcoma of the heart: a case report.

Background: Primary intimal sarcomas of the heart are extremely rare and have a dismal prognosis. Their management represents a complex clinical challenge since complete surgical resection is the only reliable possibility of cure but is only possible in 50% of patients. In non-resectable disease, anthracycline-based therapy is the most effective treatment, but pazopanib may be used in patients unfit to receive anthracyclines. Case summary: A 38-year-old man presented with acute right heart failure symptoms due to a primary intimal sarcoma of the heart. A definite diagnosis was made after cardiac surgery. Multi-modality cardiac imaging showed early recurrence of disease with mitral valve and pulmonary veins' invasion, and the patient was deemed inoperable. Due to chronic kidney disease and previous heart failure symptoms, he was started on first-line pazopanib palliative treatment. After 11 months of chemotherapy, there was good clinical tolerance and no evidence of disease progression, which occurred after 13 months. Discussion: This case highlights the value of a multi-modality imaging approach for cardiac masses. Most importantly, it reports the successful treatment of a young patient with a primary intimal sarcoma of the heart who was started on palliative pazopanib, with a significantly higher progression-free survival than is reported in the literature. This finding may support pazopanib as a good alternative as first-line treatment when there is contraindication for anthracycline-based chemotherapy.

New Perspective for Using Antimicrobial and Cell-Penetrating Peptides to Increase Efficacy of Antineoplastic 5-FU in Cancer Cells.

This study explores the effectiveness of the antineoplastic agent 5-FU in cancer cells by leveraging the unique properties of cationic antimicrobial peptides (CAMPs) and cell-penetrating peptides (CPPs). Traditional anticancer therapies face substantial limitations, including unfavorable pharmacokinetic profiles and inadequate specificity for tumor sites. These drawbacks often necessitate higher therapeutic agent doses, leading to severe toxicity in normal cells and adverse side effects. Peptides have emerged as promising carriers for targeted drug delivery, with their ability to selectively deliver therapeutics to cells expressing specific receptors. This enhances intracellular drug delivery, minimizes drug resistance, and reduces toxicity. In this research, we comprehensively evaluate the ADMET (absorption, distribution, metabolism, excretion, and toxicity) properties of various AMPs and CPPs to gain insights into their potential as anticancer agents. The peptide synthesis involved a solid-phase synthesis using a Liberty Microwave Peptide Synthesizer. The peptide purity was confirmed via LC-MS and HPLC methods. For the ADMET screening, computational tools were employed, assessing parameters like absorption, distribution, metabolism, excretion, and toxicity. The cell lines A549 and UM-UC-5 were cultured and treated with 5-FU, CAMPs, and CPPs. The cell viability was measured using the MTT assay. The physicochemical properties analysis revealed favorable drug-likeness attributes. The peptides exhibited potential inhibitory activity against CYP3A4. The ADMET predictions indicated variable absorption and distribution characteristics. Furthermore, we assessed the effectiveness of these peptides alone and in combination with 5-FU, a widely used antineoplastic agent, in two distinct cancer cell lines, UM-UC-5 and A549. Our findings indicate that CAMPs can significantly reduce the cell viability in A549 cells, while CPPs exhibit promising results in UM-UC-5 cells. Understanding these multifaceted effects could open new avenues for antiviral and anticancer research. Further, experimental validation is necessary to confirm the mechanism of action of these peptides, especially in combination with 5-FU.

A role for astrocytic insulin-like growth factor I receptors in the response to ischemic insult.

Increased neurotrophic support, including insulin-like growth factor I (IGF-I), is an important aspect of the adaptive response to ischemic insult. However, recent findings indicate that the IGF-I receptor (IGF-IR) in neurons plays a detrimental role in the response to stroke. Thus, we investigated the role of astrocytic IGF-IR on ischemic insults using tamoxifen-regulated Cre deletion of IGF-IR in glial fibrillary acidic protein (GFAP) astrocytes, a major cellular component in the response to injury. Ablation of IGF-IR in astrocytes (GFAP-IGF-IR KO mice) resulted in larger ischemic lesions, greater blood-brain-barrier disruption and more deteriorated sensorimotor coordination. RNAseq detected increases in inflammatory, cell adhesion and angiogenic pathways, while the expression of various classical biomarkers of response to ischemic lesion were significantly increased at the lesion site compared to control littermates. While serum IGF-I levels after injury were decreased in both control and GFAP-IR KO mice, brain IGF-I mRNA expression show larger increases in the latter. Further, greater damage was also accompanied by altered glial reactivity as reflected by changes in the morphology of GFAP astrocytes, and relative abundance of ionized calcium binding adaptor molecule 1 (Iba 1) microglia. These results suggest a protective role for astrocytic IGF-IR in the response to ischemic injury.

Three-dimensional echocardiography for the evaluation of hypertrophic cardiomyopathy patients: relation to symptoms and exercise capacity.

Patients with hypertrophic cardiomyopathy may exhibit impaired functional capacity, associated with increased morbidity and mortality. Systolic function is one of the determinants of functional capacity. Early identification of systolic disfunction may identify patients at risk for adverse outcomes. Myocardial deformation parameters, derived from three-dimensional (3D) speckle-tracking echocardiography (3DSTE) are useful tools to assess left ventricular systolic function, and are often abnormal before a decline in ejection fraction is seen. The aim of this study was to evaluate the correlation between myocardial deformation parameters obtained by 3DSTE and functional capacity in patients with hypertrophic cardiomyopathy. Seventy-four hypertrophic cardiomyopathy adult patients were prospectively evaluated. All patients underwent a dedicated 2D and 3D echocardiographic examination and cardiopulmonary exercise testing (CPET). Values of 3D global radial (GRS), longitudinal (3DGLS) and circumferential strain (GCS) were overall reduced in our population: 99% (n = 73) of the patients had reduced GLS, 82% (n = 61) had reduced GRS and all patients had reduced GCS obtain by 3DSTE. Average peak VO2 was 21.01 (6.08) ml/Kg/min; 58% (n = 39) of the patients showed reduced exercise tolerance (predicted peak VO2 < 80%). The average VE/VCO2 slope was 29.0 (5.3) and 16% (n = 11) of the patients had impaired ventilatory efficiency (VE/VCO2 > 34). In multivariable analysis, 3D GLS (ß1 = 0.10, 95%CI: 0.03;0.23, p = 0.014), age (ß1 = -0.15, 95%CI: -0.23; -0.05, p = 0.002) and female gender (ß1 = -5.10, 95%CI: -7.7; -2.6, p < 0.01) were independently associated with peak VO2. No association was found between left ventricle ejection fraction obtain and peak VO2 (r = 0.161, p = 0.5). Impaired myocardial deformation parameters evaluated by 3DSTE were associated with worse functional capacity assessed by peak VO2.

Cardiac device-related infective endocarditis need for lead extraction whatever the device according to the ESC EORP EURO-ENDO registry.

Aims: Cardiac device-related infective endocarditis (CDRIE) is a severe complication of cardiac device (CD) implantation and is usually treated by antibiotic therapy and percutaneous device extraction. Few studies report the management and prognosis of CDRIE in real life. In particular, the rate of device extraction in clinical practice and the management of patients with left heart infective endocarditis (LHIE) and an apparently non-infected CD (LHIE+CDRIE-) are not well described. Methods and results: We sought to study in EURO-ENDO, the characteristics, prognosis, and management of 483 patients with a CD included in the European Society of Cardiology EurObservational Research Programme EURO-ENDO registry. Three populations were compared: 280 isolated CDRIE (66.7 ± 14.3 years), 157 patients with LHIE and an apparently non-infected CD (LHIE+CDRIE-) (71.1 ± 13.6), and 46 patients with both LHIE and CDRIE (LHIE+CDRIE+) (70.2 ± 10.1). Echocardiography was not always transoesophageal echography (TOE); it was transthoracic echography (TTE) for isolated CDRIE in 88.4% (TOE = 67.6%), for LHIE+CDRIE- TTE = 93.0% (TOE = 58.6%), and for CDRIE+LHIE+ TTE = 87.0% (TOE = 63.0%). Nuclear imaging was performed in 135 patients (positive for 75.6%). In-hospital mortality was lower in isolated CDRIE 13.2% vs. 22.3% and 30.4% for LHIE+CDRIE- and LHIE+CDRIE+ (P = 0004). Device extraction was performed in 62.1% patients with isolated CDRIE, 10.2% of LHIE+CDRIE- patients, and 45.7% of CDRIE+LHIE+ patients. Device extraction was associated with a better prognosis [hazard ratio 0.59 (0.40-0.87), P = 0.0068] even in the LHIE+CDRIE- group (P = 0.047). Conclusion: Prognosis of endocarditis in patients with a CD remains poor, particularly in the presence of an associated LHIE. Although recommended by guidelines, device extraction is not always performed. Device removal was associated with better prognosis, even in the LHIE+CDRIE- group.

Impact of Coronary Artery Calcium Score Screening on Cardiovascular Risk Stratification of Patients with Atrial Fibrillation Undergoing Ablation.

INTRODUCTION: There is a well-established association between atrial fibrillation (AF) and coronary artery disease. Coronary artery calcium score (CACS) is a helpful tool to refine cardiovascular (CV) risk stratification and inform on the best strategies for primary CV prevention. This study aims to evaluate the impact of opportunistic screening with CACS on risk stratification and decision of preventive therapies, in patients with AF. METHODS: Cross-sectional study including patients with AF or atrial flutter undergoing cardiac computed tomography for ablation procedure planning, from 2017 to 2019. Baseline clinical and demographical data were collected. CACS was assessed in patients without coronary artery disease using the Agatston method. RESULTS: A total of 474 patients were included (93% with AF, mean age of 58 ± 10 years, 62% male). CACS >0 was present in 254 (54%) patients. According to CACS and the Society of Cardiovascular Computed Tomography recommendations, 25% of the patients would be candidates for statin therapy and 17% would be candidates for changes in the current statin intensity; in 11 patients (8%), acetylsalicylic acid would be recommended. CONCLUSION: In our study, more than half of the patients undergoing cardiac computed tomography before AF catheter ablation had CACS above zero. Our findings suggest that an opportunistic evaluation of CACS at the time of ablation can be an important tool to improve CV risk stratification, with important clinical and therapeutic implications.

El tejido adiposo epicárdico no es un predictor independiente de recurrencia de fibrilación auricular tras ablación con catéter / Epicardial adipose tissue volume is not an independent predictor of atrial fibrillation recurrence after catheter ablation

Introducción y objetivos: Estudios previos han sugerido que el tejido adiposo epicárdico (TAE) podría ejercer un efecto paracrino en el miocardio. Sin embargo, pocos estudios han evaluado su papel en el riesgo de recurrencia de la fibrilación auricular (FA). El objetivo de ese estudio fue evaluar la asociación entre el volumen de TAE y su atenuación con el riesgo de recurrencia de FA tras la ablación de FA. Métodos: Se incluyó un total de 350 pacientes consecutivos sometidos a ablación de FA - mediana de edad 57 años [RIC 48-65], 21% FA persistente. La grasa epicárdica se cuantificó mediante tomografía computarizada multidetector utilizando el software Syngo.via Frontier-Cardiac Risk Assessment, midiendo el volumen tejido adiposo pericárdico (VTAP), el volumen de TAE y la atenuación de TAE posterior a la aurícula izquierda. La recurrencia de FA se definió como cualquier episodio documentado de FA, aleteo auricular, o taquicardia auricular más de 3 meses después del procedimiento. Resultados: Tras una mediana de seguimiento de 34 meses [rango de 12 a 57 meses], 114 pacientes (33%) tuvieron recurrencia de FA. La regresión de Cox univariable mostró que los pacientes con un volumen de TAE ≥ 80ml tenían un mayor riesgo de recurrencia de FA (HR=1,65; IC95%, 1,14-2,39; p=0,007). Sin embargo, después del ajuste multivariable, el volumen de TAE no fue un predictor independiente de recurrencia de FA (HR=1,24; IC95%, 0,83-1,87; p=0,3). Se observaron resultados similares con VTAP. Los pacientes con menor atenuación de TAE no tenían un mayor riesgo de recurrencia de FA (prueba de rango logarítmico p=0,75). Conclusiones: Los parámetros de TAE, incluida la evaluación del volumen de TAE, VTAP y la atenuación de TAE, no fueron predictores independientes de recurrencia de FA después de la ablación con catéter. (AU)

Introduction and objectives: Previous studies have suggested that epicardial adipose tissue (EAT) could exert a paracrine effect in the myocardium. However, few studies have assessed its role in the risk of atrial fibrillation (AF) recurrence. This study aimed to evaluate the association between EAT volume, and its attenuation, with the risk of AF recurrence after AF ablation. Methods: A total of 350 consecutive patients who underwent AF ablation were included. The median age was 57 [IQR 48-65] years and 21% had persistent AF. Epicardial fat was quantified by multidetector computed tomography using Syngo.via Frontier-Cardiac Risk Assessment software, measuring pericardial fat volume (PATV), EAT volume, and attenuation of EAT posterior to the left atrium. AF recurrence was defined as any documented episode of AF, atrial flutter, or atrial tachycardia more than 3 months after the procedure. Results: After a median follow-up of 34 [range, 12-57] months, 114 patients (33%) had AF recurrence. Univariable Cox regression showed that patients with an EAT volume ≥ 80mL had an increased risk of AF recurrence (HR, 1.65; 95%CI, 1.14-2.39; P=.007). However, after multivariable adjustment, EAT volume did not remain an independent predictor of AF recurrence (HR, 1.24; 95%CI, 0.83-1.87; P=.3). Similar results were observed with PATV. Patients with lower attenuation of EAT did not have a higher risk of AF recurrence (log-rank test, P=.75). Conclusions: EAT parameters including the evaluation of EAT volume, PATV and EAT attenuation were not independent predictors of AF recurrence after catheter ablation. (AU)

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients.

Mosquito-borne West Nile virus (WNV) infection is benign in most individuals but can cause encephalitis in <1% of infected individuals. We show that ∼35% of patients hospitalized for WNV disease (WNVD) in six independent cohorts from the EU and USA carry auto-Abs neutralizing IFN-α and/or -ω. The prevalence of these antibodies is highest in patients with encephalitis (∼40%), and that in individuals with silent WNV infection is as low as that in the general population. The odds ratios for WNVD in individuals with these auto-Abs relative to those without them in the general population range from 19.0 (95% CI 15.0-24.0, P value <10-15) for auto-Abs neutralizing only 100 pg/ml IFN-α and/or IFN-ω to 127.4 (CI 87.1-186.4, P value <10-15) for auto-Abs neutralizing both IFN-α and IFN-ω at a concentration of 10 ng/ml. These antibodies block the protective effect of IFN-α in Vero cells infected with WNV in vitro. Auto-Abs neutralizing IFN-α and/or IFN-ω underlie ∼40% of cases of WNV encephalitis.

Microvascular Dysfunction Is Associated With Impaired Myocardial Work in Obstructive and Nonobstructive Hypertrophic Cardiomyopathy: A Multimodality Study.

Background Two-dimensional speckle tracking echocardiography has been shown to correlate with microvascular dysfunction, a hallmark of hypertrophic cardiomyopathy (HCM). We hypothesized that there is an association between myocardial work and left ventricular ischemia, with incremental value to global longitudinal strain, in patients with HCM. Methods and Results We performed a prospective assessment of patients with HCM, undergoing 2-dimensional speckle tracking echocardiography and stress perfusion cardiac magnetic resonance. Results were stratified according to obstructive or nonobstructive HCM and the presence of significant replacement fibrosis (late gadolinium enhancement ≥15% of left ventricular mass). Seventy-five patients with HCM (63% men, age 55±15 years) were evaluated, 28% with obstructive HCM (mean gradient 89±60 mm Hg). Perfusion defects were found in 90.7%, involving 22.5±16.9% of left ventricular mass, and 38.7% had late gadolinium enhancement ≥15%. In a multivariable analysis, a lower global work index (r=-0.519, ß-estimate -10.822; P=0.001), lower global work efficiency (r=-0.379, ß-estimate -0.123; P=0.041), and impaired global constructive work (r=-0.532, ß-estimate -13.788; P<0.001) significantly correlated with ischemia. A segmental analysis supported these findings, albeit with lower correlation coefficients. A global work index cutoff ≤1755 mm Hg% was associated with hypoperfusion with a sensitivity of 88% and a specificity of 71%, while the best cutoff for global longitudinal strain (>-15.5%) had a sensitivity of 64% and a specificity of 57%. The association between myocardial work and perfusion defects was significant independently of late gadolinium enhancement ≥15% and obstructive HCM. Conclusions Impaired myocardial work was significantly correlated with the extent of ischemia in cardiac magnetic resonance, independently of the degree of left ventricular hypertrophy or fibrosis, with a higher predictive power than global longitudinal strain.

GALIPDIA study: Reaching lipid targets in a population with type 2 diabetes (T2DM) from the Northwest of Spain.

AIM: To assess the degree of compliance with the European ESC/EAS 2016 and 2019 dyslipidaemia guidelines in patients with type 2 diabetes mellitus (T2DM). METHODS: Multicentre retrospective cross-sectional study, conducted in 380 adults with T2DM and dyslipidaemia in 7 Spanish health areas. INCLUSION CRITERIA: minimum follow-up of one year in Endocrinology Units, at least one visit in 2020 and a lipid profile measurement in the last 3 months. EXCLUSION CRITERIA: familial hypercholesterolaemia, recent hospitalisation, active oncological pathology and dialysis. RESULTS: According to the 2016 and 2019 guidelines the majority of patients were classified as being at very high cardiovascular risk (86.8% vs. 72.1%, respectively). LDL-c compliance was adequate in 62.1% of patients according to the 2016 guidelines and 39.7% according to the 2019 guidelines (p<0.001). Clinical conditions such as history of cardiovascular disease and therapy-related aspects (use of statins, especially high-potency statins, combination therapies and good adherence) were significantly associated with greater achievement of lipid targets. CONCLUSION: There is a discrepancy between dyslipidaemia guideline recommendations and the reality of lipid control in patients with T2DM, despite most of these patients being at very high cardiovascular risk. Strategies to optimise lipid-lowering treatments need to be implemented.

Self-care nursing interventions: A qualitative study into electronic health records' contents.

AIMS: This study aims to (1) analyse all self-care-related interventions Portuguese nurses documented, (2) determine potential issues that may impair semantic interoperability and (3) propose a new set of interventions representing nursing actions regarding self-care that may integrate any HER application. BACKGROUND: As populations age and chronic diseases increase, self-care concerns rise. Individuals who seek healthcare, regardless of context, need prompt access to accurate health information. Healthcare professionals need to understand the information in all places where care is provided, creating the need for semantic interoperability within electronic health records. METHODS: A qualitative descriptive and exploratory study was conducted in two phases: (1) a content analysis of nursing interventions e-documentation and (2) a focus group with fifteen registered nurses exploring latent criteria or insights gleaned from the findings of content analysis. The COREQ statement was used to guide research reporting. RESULTS: We extracted 1529 nursing intervention sentences from the electronic health records and created 209 intervention categories. We identified the main issues with semantic interoperability in nursing intervention identification. CONCLUSION: According to the findings, nurses cooperate with clients, offering physical aid and encouraging them to overcome functional limitations to self-care tasks hampered by their conditions. IMPLICATIONS FOR NURSING POLICY AND HEALTH POLICY: This article provides evidence to warn policy makers against decisions to use locally customised electronic health records, as well as evidence on the importance of policy promoting the adoption of a nursing ontology for electronic health records. And, as a result, the harmonisation and effective provision of high-quality nursing care and the reduction of healthcare costs across nations.

Higher coronary artery calcium score is associated with increased risk of atrial fibrillation recurrence after catheter ablation.

BACKGROUND: Coronary artery calcium score (CACS) is associated with an increased risk of atrial fibrillation (AF) development, but scarce data are available regarding the impact on AF recurrence. This study aims to assess the impact of CACS on AF recurrence following catheter ablation. METHODS: Retrospective study of patients with AF undergoing cardiac computed tomography (CCT) before ablation (2017-2019). Patients with coronary artery disease (CAD), significant valvular heart disease and previous catheter ablation were excluded. A cut-off of CACS ≥ 100 was used according to literature. RESULTS: A total of 311 patients were included (median age 57 [48, 64] years, 65% men and 21% with persistent AF). More than half of the patients had a CACS > 0 (52%) and 18% a CACS ≥ 100. Patients with CACS ≥ 100 were older (64 [59, 69] vs 55 [46, 63] years, p â€‹< â€‹0.001), had more frequently hypertension (68% vs 42%, p â€‹< â€‹0.001) and diabetes mellitus (21% vs 10%, p â€‹= â€‹0.020). During a median follow-up of 34 months (12-57 months), 98 patients (32%) had AF recurrence. CACS ≥ 100 was associated with increased risk of AF recurrence (unadjusted Cox regression: hazard ratio [HR] 2.0; 95% confidence interval [CI], 1.3-3.1, p â€‹= â€‹0.002). After covariate adjustment, CACS ≥ 100 and persistent AF remained independent predictors of AF recurrence (HR, 1.7; 95% CI, 1.0-2.8, p â€‹= â€‹0.039 and HR, 2.0; 95% CI, 1.3-3.2, p â€‹= â€‹0.004, respectively). CONCLUSION: An opportunistic evaluation of CACS could be an important tool to improve clinical care considering that CACS ≥ 100 was independently associated with a 69% increase in the risk of AF recurrence after first catheter ablation.

Epicardial adipose tissue volume is not an independent predictor of atrial fibrillation recurrence after catheter ablation.

INTRODUCTION AND OBJECTIVES: Previous studies have suggested that epicardial adipose tissue (EAT) could exert a paracrine effect in the myocardium. However, few studies have assessed its role in the risk of atrial fibrillation (AF) recurrence. This study aimed to evaluate the association between EAT volume, and its attenuation, with the risk of AF recurrence after AF ablation. METHODS: A total of 350 consecutive patients who underwent AF ablation were included. The median age was 57 [IQR 48-65] years and 21% had persistent AF. Epicardial fat was quantified by multidetector computed tomography using Syngo.via Frontier-Cardiac Risk Assessment software, measuring pericardial fat volume (PATV), EAT volume, and attenuation of EAT posterior to the left atrium. AF recurrence was defined as any documented episode of AF, atrial flutter, or atrial tachycardia more than 3 months after the procedure. RESULTS: After a median follow-up of 34 [range, 12-57] months, 114 patients (33%) had AF recurrence. Univariable Cox regression showed that patients with an EAT volume ≥ 80mL had an increased risk of AF recurrence (HR, 1.65; 95%CI, 1.14-2.39; P=.007). However, after multivariable adjustment, EAT volume did not remain an independent predictor of AF recurrence (HR, 1.24; 95%CI, 0.83-1.87; P=.3). Similar results were observed with PATV. Patients with lower attenuation of EAT did not have a higher risk of AF recurrence (log-rank test, P=.75). CONCLUSIONS: EAT parameters including the evaluation of EAT volume, PATV and EAT attenuation were not independent predictors of AF recurrence after catheter ablation.

Associations between perfusion defects, tissue changes and myocardial deformation in hypertrophic cardiomyopathy, uncovered by a cardiac magnetic resonance segmental analysis.

BACKGROUND: Microvascular dysfunction is an often overlooked feature of hypertrophic cardiomyopathy (HCM). Our aim was to assess the association between microvascular dysfunction, wall thickness, tissue characteristics and myocardial deformation in HCM patients, by analyzing individual myocardial segments. METHODS: Prospective assessment including cardiac magnetic resonance to assess wall thickness, T1 and T2 mapping, extracellular volume, late gadolinium enhancement (LGE) and stress perfusion. Results were stratified according to the 16 American Heart Association segments. RESULTS: Seventy-five patients were recruited (1200 segments), 63% male, mean age 54.6±14.8 years, maximal wall thickness of 20.22±4.6 mm. Among the 424 segments (35%) with perfusion defects, 24% had defects only in the endocardial layer and 12% in both endocardial and epicardial layers. Perfusion defects were more often detected in hypertrophied segments (64%). Among the 660 segments with normal wall thickness, 19% presented perfusion defects. Independently of wall thickness, segments with perfusion defects had a higher T1 (ß-estimate 30.28, p<0.001), extracelluar volume (ß-estimate 1.50, p<0.001) and T2 (ß-estimate 0.73, p<0.001) and had late gadolinium enhancement more frequently (odds ratio 4.16, p<0.001). Higher values of circumferential strain (lower deformation) and lower values of radial strain were found in segments with perfusion defects (ß-estimate 2.76, p<0.001; and ß-estimate -10.39, p<0.001, circumferential and radial strain, respectively). CONCLUSION: While microvascular dysfunction was more prevalent in more hypertrophied segments, it also had a major presence in segments without hypertrophy. In this segmental analysis, we found an association between the presence of ischemia and tissue abnormalities, replacement fibrosis as well as impaired strain, independently of the segmental wall thickness.

Blunted coronary flow velocity reserve is associated with impairment in systolic function and functional capacity in hypertrophic cardiomyopathy.

BACKGROUND: Coronary microvascular dysfunction constitutes an important pathophysiological feature in hypertrophic cardiomyopathy (HCM). We aimed to assess the association between impaired coronary flow velocity reserve (CFVR) and ventricular systolic function and functional capacity. METHODS: Eighty-three patients with HCM were enrolled in this prospective cohort study. Patients underwent echocardiogram to evaluate ventricular performance and CFVR in the left anterior descending artery (LAD) and posterior descending artery (PD). Diastolic coronary flow velocity was measured in basal conditions and in hyperemia. CFVR was calculated as the ratio of hyperemic and basal peak diastolic flow velocities. Functional capacity was evaluated by cardiopulmonary exercise testing (CPET). The link between CFVR and biventricular systolic function and peak VO2 was studied. RESULTS: Age was 55.0(14.4)years, 50 patients (60%) were male; 59 patients (71%) had nonobstructive HCM. Mean CFVR LAD was 1.81(0.49) and CFVR PD was 1.73(0.55). Lower CFVR PD was associated with impaired global longitudinal strain (GLS) 2D (ß-estimate:-3.240,95%CI:-4.634;-1.846, p < 0.001), GLS 3D (ß-estimate:-2.559,95%CI:-3.932;-1.186, p < 0.001) and area strain (ß-estimate:-3.044,95%CI:-5.373;-0.716, p = 0.011). Lower values of CFVR PD related to worse global work index (ß-estimate:267.824,95%CI:75.964;459.683, p = 0.007), global constructive work (ß-estimate:217.300,95%CI:38.750;395.850, p = 0.018) and global work efficiency (ß-estimate:5.656,95%CI:2.229;9.084, p = 0.002). Impaired CFVR LAD (ß-estimate:2.826, 95%CI:0.913;4.739, p = 0.004) and CFVR PD (ß-estimate:2.801,95%CI:0.657;4.945, p = 0.011) were associated with lower TAPSE. Lower values of CFVR LAD (ß-estimate:2.580, 95%CI:0.169;4.991, p = 0.036) and CFVR PD (ß-estimate:3.163, 95%CI: 0.721;5.606, p = 0.012) were associated with worse peak VO2. CONCLUSION: Lower CFVR was associated with impairment in biventricular systolic function parameters and functional capacity assessed by pVO2.

Nursing knowledge of people with paresis of voluntary muscles: a living scoping review protocol.

OBJECTIVE: This review aims to continuously map the nursing knowledge about people with paresis of voluntary muscles in any context of care. INTRODUCTION: Muscle paresis is a condition that significantly impacts quality of life. Nurses have a crucial role in managing this condition, particularly paresis of voluntary movement muscles. However, nursing knowledge about patients with paresis of voluntary muscles is dispersed, hampering the integration of evidence within the structure of information systems. Mapping how the nursing process components are identified is the first step in creating a Nursing Clinical Information Model for this condition, capable of integrating evidence into information systems. INCLUSION CRITERIA: This scoping review will consider studies focusing on the nursing process regarding people with paresis of voluntary muscles in all care contexts. The review will include quantitative, qualitative, and mixed-methods study designs, systematic reviews, clinical guidelines, dissertations, and theses. METHODS: The review process will follow JBI's scoping review guidance, as well as the Cochrane Collaboration's guidance on living reviews. Screening of new literature will be performed regularly, with the review being updated according to new findings. The search strategy will map published and unpublished studies. The databases to be searched will include MEDLINE, CINAHL, Scopus, JBI Evidence Synthesis , and the Cochrane Central Register of Controlled Trials. Searches for unpublished studies will include OpenGrey and Repositorios Científicos de Acesso Aberto de Portugal. Studies published in English and Portuguese from 1975 will be considered for inclusion. REGISTRATION: Open Science Framework: https://osf.io/d7c9g/.

Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

INTRODUCTION AND OBJECTIVES: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. METHODS: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. RESULTS: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect. CONCLUSIONS: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis.

Nursing knowledge on skin ulcer healing: a living scoping review protocol.

OBJECTIVE: This review aims to continuously map the nursing knowledge on skin ulcer healing in any context of care. INTRODUCTION: Chronic wounds are an increasing concern for society and health care providers. Pressure ulcers and venous ulcers, among others, have devastating effects on morbidity and quality of life and require a systematic approach. The nursing process is an important method that allows a better organization and overall care quality for a systematic and continuous professional approach to nursing management of skin ulcers. The integration of this nursing knowledge in informatics systems creates an opportunity to embed decision-support models in clinical activity, promoting evidence-based practice. INCLUSION CRITERIA: This scoping review will consider articles on nursing data, diagnosis, interventions, and outcomes focused on people with skin ulcers in all contexts of care. This review will include quantitative, qualitative, and mixed methods study designs as well as systematic reviews and dissertations. METHODS: JBI's scoping review guidance, as well as the Cochrane Collaboration's guidance on living reviews, will be followed to meet the review's objective. Screening of new literature will be performed regularly, with the review updated according to new findings. The search strategy will map published and unpublished studies. The databases to be searched include MEDLINE, CINAHL, Scopus, JBI Evidence Synthesis, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, and PEDro. Searches for unpublished studies will include OpenGrey and Repositórios Científicos de Acesso Aberto de Portugal. Studies published in English and Portuguese since 2010 will be considered for inclusion. SCOPING REVIEW PROTOCOL REGISTRATION: Open Science Framework: https://osf.io/f6s4e/.

Tuberculosis espinal: opciones de tratamiento mas allá de las guías clínicas / Spinal tuberculosis - Treatment options beyond guidelines

Spinal tuberculosis, a presentation of extrapulmonary tuberculosis, usually presents with chronic back pain or deformity. The diagnosis is often delayed due to the insidious and nonspecific nature of the initial symptoms. The thoracic spine is more commonly affected, but it can affect other segments or be multisegmental. The site and extent of the lesion will determine the resulting neurological deficits which can lead to significant morbidity and functional impairment. Combination chemotherapy for 6 months is recommended, but some experts may recommend therapy for 9 to 12 months depending on the circumstances. Adjunct corticotherapy and surgery are also options in specific cases. Further studies will be needed in order to better understand the role of these therapies in severe tuberculosis, and in particular spinal tuberculosis. (AU)