Coocurrencia de trastornos de personalidad en pacientes con trastornos de ansiedad

The co-occurrence between personality disorders and anxiety disorders may have important implications. Multiple diagnoses can give us an idea of the severity of the disorder, functioning impairment and prognosis. The aim of this study was two-fold, to analyze the co-occurrence between personality disorders and anxiety disorders, and to identify personality disorder profiles in different anxiety disorders. A total of 31 patients with anxiety disorders participated in the study. They were divided into four groups: specific phobia, social phobia, generalized anxiety and panic with or without the presence of agoraphobia. The assessment instruments used were The Millon Clinical Multiaxial Inventory II and the Anxiety Disorders Interview according to the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders. The specific phobia group presented lower scores on the different scales and lower frequency of personality disorders. On the contrary, the generalized anxiety group had a higher rate of multiple diagnoses of personality disorders. Higher scores were observed in the schizoid, dependent, self-defeating, avoidant and compulsive scales. Each anxiety disorder presented a profile of personality disorders. Co-occurrence between disorders may help to understand the success or failure of a treatment, so the systematic evaluation of pathological personality in the clinical setting is recommended.    La coocurrencia entre los trastornos de personalidad y los trastornos de ansiedad puede tener implicaciones importantes. Los diagnósticos múltiples nos pueden dar idea de la gravedad de la alteración, el deterioro del funcionamiento y el pronóstico. El objetivo de este estudio fue doble, analizar la coocurrencia entre trastornos de personalidad y trastornos de ansiedad, e identificar perfiles de trastornos de personalidad en los diferentes trastornos de ansiedad. En este estudio participaron 31 pacientes con trastornos de ansiedad, distribuidos en cuatro grupos: fobia específica, fobia social, ansiedad generalizada y pánico, con y sin presencia de agorafobia. Los instrumentos de evaluación utilizados fueron El Inventario Clínico Multiaxial de Millon II y la Entrevista para los Trastornos de Ansiedad según el Manual diagnóstico y estadístico de los trastornos mentales IV. El grupo de fobia específica presenta puntuaciones más bajas en las distintas escalas y menor frecuencia de trastornos de personalidad. Por el contrario, el grupo de ansiedad generalizada presenta mayor tasa de diagnósticos múltiples de trastornos de personalidad. Las puntuaciones más altas se observan en las escalas esquizoide, dependiente, autodestructiva, evitativa y compulsiva. Cada trastorno de ansiedad presenta un perfil de trastornos de personalidad. Tener en cuenta la coocurrencia entre trastornos puede ayudar a comprender el éxito o no de un tratamiento, por lo que la evaluación sistemática de la personalidad patológica en el ámbito clínico es recomendable.&nbsp

Plan de cuidados relacionado con el proceso asistencial integrado atención a las personas fumadoras

Tobacco is one of the most consumed legal drugs in the world and an important risk factor for morbidity and mortality. The case of a patient who goes to the nursing consultation of a Health Center is described. He was detected as a tobacco consumer and captured to carry out a care plan for the Integrated Healthcare Process for Smokers. The main nursing diagnoses were related to a tendency to adopt risky behaviors for health, conflict of decisions (quit smoking) and updating to improve knowledge. It was developed group therapy, and reduction of daily nicotine consumption until its complete elimination. This process is a helpful tool to keep working in a patient-centered medical care.El tabaco es una de las drogas legales más consumidas en el mundo y un importante factor de riesgo de morbi-mortalidad asociado a diferentes enfermedades. Se describe el caso de un paciente que acude a la consulta de enfermería de su centro de salud, detectado como consumidor de tabaco y captado para realizar un plan de cuidados mediante el Proceso Asistencial Integrado de Atención a Personas Fumadoras. Los principales diagnósticos de enfermería se relacionaron con una tendencia a adoptar conductas de riesgo para la salud, conflicto de decisiones (dejar de fumar) y disposición para mejorar los conocimientos. Se desarrollaron medidas como la terapia de grupo, además de la reducción del consumo de nicotina diaria hasta su completa eliminación. Este proceso constituye una herramienta de ayuda para seguir trabajando en una atención sanitaria centrada en el paciente

Diagnostic and Therapeutic Approaches for Heart Failure in Long-Term Survivors of Childhood Cancer

The improvement in survival rates in pediatric malignancies has led to an increase in the number of cancer survivors who are at risk of developing cardiotoxicity and heart failure. Cardiac dysfunction in these patients can occur asymptomatically, and the diagnosis in a symptomatic phase is associated with reduced treatment response and worse prognosis. For this reason, it is essential to establish protocols to follow up on these patients and identify those at risk of cardiotoxicity in order to start early and effective therapies. This review aims to summarize the latest findings in the diagnosis and treatment of cancer therapy-related cardiac disease in long-term survivors of childhood cancer, with a focus on heart failure

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

Dilated cardiomyopathy (DCM) is the third most common cause of heart failure. The multidisciplinary nature of testing ¿ involving genetics, imaging, or cardiovascular techniques ¿ makes its diagnosis challenging. Novel and reliable biomarkers are needed for early identifcation and tailored personalized management. Peripheral circular RNAs (circRNAs), a leading research topic, remain mostly unexplored in DCM. We aimed to assess whether peripheral circRNAs are expressed diferentially among etiology-based DCM. The study was based on a case¿control multicentric study. We enrolled 130 subjects: healthy controls (n=20), idiopathic DCM (n=30), ischemic DCM (n=20), and familial DCM patients which included pathogen variants of (i) LMNA gene (n=30) and (ii) BCL2-associated athanogene 3 (BAG3) gene (n=30). Diferentially expressed circRNAs were analyzed in plasma samples by quantitative RT-PCR and cor¿ related to relevant systolic and diastolic parameters. The patho¿ physiological implications were explored through bioinformatics tools. Four circRNAs were overexpressed compared to controls: hsa_circ_0003258, hsa_circ_0051238, and hsa_circ_0051239 in LMNA-related DCM and hsa_circ_0089762 in the ischemic DCM cohort. The obtained areas under the curve confrm the discriminative capacity of circRNAs. The circRNAs correlated with some diastolic and systolic echocardiographic parameters with notable diagnostic potential in DCM. Circulating circRNAs may be helpful for the etiology-based diagnosis of DCM as a non-invasive biomarker

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

Dilated cardiomyopathy (DCM) is the third most common cause of heart failure. The multidisciplinary nature of testing - involving genetics, imaging, or cardiovascular techniques - makes its diagnosis challenging. Novel and reliable biomarkers are needed for early identification and tailored personalized management. Peripheral circular RNAs (circRNAs), a leading research topic, remain mostly unexplored in DCM. We aimed to assess whether peripheral circRNAs are expressed differentially among etiology-based DCM. The study was based on a case-control multicentric study. We enrolled 130 subjects: healthy controls (n = 20), idiopathic DCM (n = 30), ischemic DCM (n = 20), and familial DCM patients which included pathogen variants of (i) LMNA gene (n = 30) and (ii) BCL2-associated athanogene 3 (BAG3) gene (n = 30). Differentially expressed circRNAs were analyzed in plasma samples by quantitative RT-PCR and correlated to relevant systolic and diastolic parameters. The pathophysiological implications were explored through bioinformatics tools. Four circRNAs were overexpressed compared to controls: hsa_circ_0003258, hsa_circ_0051238, and hsa_circ_0051239 in LMNA-related DCM and hsa_circ_0089762 in the ischemic DCM cohort. The obtained areas under the curve confirm the discriminative capacity of circRNAs. The circRNAs correlated with some diastolic and systolic echocardiographic parameters with notable diagnostic potential in DCM. Circulating circRNAs may be helpful for the etiology-based diagnosis of DCM as a non-invasive biomarker. Key messages The limitations of cardiac diagnostic imaging and the absence of a robust biomarker reveal the need for a diagnostic tool for dilated cardiomyopathy (DCM). The circular RNA (circRNA) expression pattern is paramount for categorizing the DCM etiologies. Our peripheral circRNAs fingerprint discriminates between various among etiology-based DCM and correlates with some echocardiographic parameters. We provide a potential non-invasive biomarker for the etiology-based diagnosis of LMNA-related DCM and ischemic DCM.Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. This work was supported by grants in the framework of the European Regional Development Fund (ERDF) Integrated Territorial Initiative (ITI PI0048-2017 and ITI0033_2019), a clinical research grant from the Spanish Society of Cardiology for Basic Research in cardiology (PI0012_2019), COST (European Cooperation in Science and Technology) Action EUCardioRNA CA17129, and the Portuguese Foundation for Science and Technology (FCT) under the framework of the research grant PTDC-MED-GEN-29389-2017

Co-occurrence of Personality Disorders in Patients with Anxiety Disorders

The co-occurrence between personality disorders and anxiety disorders may have important implications. Multiple diagnoses can give us an idea of the severity of the disorder, functioning impairment and prognosis. The aim of this study was two-fold, to analyze the co-occurrence between personality disorders and anxiety disorders, and to identify personality disorder profiles in different anxiety disorders. A total of 31 patients with anxiety disorders participated in the study. They were divided into four groups: specific phobia, social phobia, generalized anxiety and panic with or without the presence of agoraphobia. The assessment instruments used were The Millon Clinical Multiaxial Inventory II and the Anxiety Disorders Interview according to the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders. The specific phobia group presented lower scores on the different scales and lower frequency of personality disorders. On the contrary, the generalized anxiety group had a higher rate of multiple diagnoses of personality disorders. Higher scores were observed in the schizoid, dependent, self-defeating, avoidant and compulsive scales. Each anxiety disorder presented a profile of personality disorders. Co-occurrence between disorders may help to understand the success or failure of a treatment, so the systematic evaluation of pathological personality in the clinical setting is recommended

Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure.

BACKGROUND AND AIMS Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterise the cardiac complications of EMD variants. METHODS Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidence in male and female variant-carriers was determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared to consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers (mean [SD] ages 33.4 [13.3] and 43.3 [16.8] years, respectively). Nine (23.6%) males developed MVA and five (13.2%) developed ESHF during a median [IQR] follow-up of 65.0 [24.3, 109.5] months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median [IQR] age of 58.6 [53.2, 60.4] years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank p = 0.49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank p = 0.09). CONCLUSIONS Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.The work reported in this publication was funded by: a British Heart Foundation Clinical Research Training Fellowship to D.E.C. (FS/CRTF/ 20/24022); a British Heart Foundation Clinical Research Training fellowship to A.P. (FS/18/82/34024); The Ministry of Health, Italy, project RC-2022-2773270 to E.B.; the National Institutes of Health (NIH) (R01HL69071, R01HL116906, R01HL147064, NIH/NCATS UL1 TR002535, and UL1 TR001082) to L.M.; and support from the Rose Foundation for K.M.S

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

BACKGROUND: Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes of TTNtv carriers. METHODS: Five hundred thirty-seven individuals (61% men; 317 probands) with TTNtv were recruited in 14 centers (372 [69%] with baseline left ventricular systolic dysfunction [LVSD]). Baseline and longitudinal clinical data were obtained. The primary end point was a composite of malignant ventricular arrhythmia and end-stage heart failure. The secondary end point was left ventricular reverse remodeling (left ventricular ejection fraction increase by ≥10% or normalization to ≥50%). RESULTS: Median follow-up was 49 (18-105) months. Men developed LVSD more frequently and earlier than women (45±14 versus 49±16 years, respectively; P=0.04). By final evaluation, 31%, 45%, and 56% had atrial fibrillation, frequent ventricular ectopy, and nonsustained ventricular tachycardia, respectively. Seventy-six (14.2%) individuals reached the primary end point (52 [68%] end-stage heart failure events, 24 [32%] malignant ventricular arrhythmia events). Malignant ventricular arrhythmia end points most commonly occurred in patients with severe LVSD. Male sex (hazard ratio, 1.89 [95% CI, 1.04-3.44]; P=0.04) and left ventricular ejection fraction (per 10% decrement from left ventricular ejection fraction, 50%; hazard ratio, 1.63 [95% CI, 1.30-2.04]; P<0.001) were independent predictors of the primary end point. Two hundred seven of 300 (69%) patients with LVSD had evidence of left ventricular reverse remodeling. In a subgroup of 29 of 74 (39%) patients with initial left ventricular reverse remodeling, there was a subsequent left ventricular ejection fraction decrement. TTNtv location was not associated with statistically significant differences in baseline clinical characteristics, left ventricular reverse remodeling, or outcomes on multivariable analysis (P=0.07). CONCLUSIONS: TTNtv is characterized by frequent arrhythmia, but malignant ventricular arrhythmias are most commonly associated with severe LVSD. Male sex and LVSD are independent predictors of outcomes. Mutation location does not impact clinical phenotype or outcomes

Late gadolinium enhancement distribution patterns in non-ischemic dilated cardiomyopathy: Genotype-phenotype correlation.

AIMS Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM), there is little information about its frequency and distribution pattern according to underlying genetic substrate. We sought to describe LGE patterns according to genotype and to analyze the risk of major ventricular arrhythmias (MVA) according to patterns. METHODS AND RESULTS Cardiac magnetic resonance findings and LGE distribution according to genetics was performed in a cohort of 600 DCM patients followed at 20 Spanish centers. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, LVEF 36.9 ± 13.9%) conformed the final cohort. A causative genetic variant was identified in 219 (38%) patients and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20 and MYH7 (0%, 5% and 20%, respectively). Patients with variants in DMD, DSP and FLNC showed predominance of LGE subepicardial pattern (50%, 41% and 18%, respectively) whereas patients with variants in TTN, BAG3, LMNA and MYBPC3 showed unspecific LGE patterns. Genetic yield differed according to LGE pattern. Patients with subepicardial, lineal midwall, transmural, right ventricular insertion points or with combination of LGE patterns showed increased risk of MVA compared with patients without LGE. CONCLUSION LGE patterns in DCM has a specific distribution according to the affected gene. Certain LGE patterns are associated with increased risk of MVA and with increased yield of genetic testing.This study has been funded by Instituto Salud Carlos III (ISCIII) through the projects ‘PI18/0004, PI19/01283, and PI20/0320’ (co-funded by the European Regional Development Fund/European Social Fund ‘A way to make Europe’/‘Investing in your future’). The Hospital Universitario Puerta de Hierro, the Hospital Universitario Vall Hebrón, the Hospital General Universitario Gregorio Marañón, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart). F.d.F. receives grant support from ISCIII (CM20/00101). R.B. receives funding from the Obra Social la Caixa Foundation. M.B. receives funding from ISCIII (PI19/01283). The CNIC is supported by the ISCIII, Ministerio de Ciencia e Innovación of the Spanish Government (MCIN), and Pro CNIC Foundation.S

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

BACKGROUND AND AIMS: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterise the cardiac complications of EMD variants. METHODS: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidence in male and female variant-carriers was determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared to consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers (mean [SD] ages 33.4 [13.3] and 43.3 [16.8] years, respectively). Nine (23.6%) males developed MVA and five (13.2%) developed ESHF during a median [IQR] follow-up of 65.0 [24.3, 109.5] months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median [IQR] age of 58.6 [53.2, 60.4] years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank p = 0.49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank p = 0.09). CONCLUSIONS: Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease