Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia

Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro resultsThis study received support from the Instituto de Salud Carlos III (Proyecto de Investigación en Salud, Acción Estratégica en Salud): project GePEM ISCIII/PI16/01478/Cofinanciado FEDER) (AS) and project ReSVinext ISCIII/PI16/01569/Cofinanciado FEDER (FM-T); Consellería de Sanidade, Xunta de Galicia (RHI07/2-intensificación actividad investigadora, PS09749 and 10PXIB918184PR), Instituto de Salud Carlos III (Intensificación de la actividad investigadora 2007–2012, PI16/01569), Fondo de Investigación Sanitaria (FIS; PI070069/PI1000540) del plan nacional de I + D + I and fondos FEDER (FM-T), and 2016-PG071 Consolidación e Estructuración REDES 2016GI-1344 G3VIP (Grupo Gallego de Genética Vacunas Infecciones y Pediatría, 3) (AS and FM-T)S

Plasma miR-486-5p Expression Is Upregulated in Atrial Fibrillation Patients with Broader Low-Voltage Areas

Atrial fibrillation (AF) is the most common arrhythmia worldwide, affecting 1% of the population over 60 years old. The incidence and prevalence of AF are increasing globally, representing a relevant health problem, suggesting that more advanced strategies for predicting risk stage are highly needed. miRNAs mediate several processes involved in AF. Our aim was to identify miRNAs with a prognostic value as biomarkers in patients referred for AF ablation and its association with LVA extent, based on low-voltage area (LVA) maps. In this study, we recruited 44 AF patients referred for catheter ablation. We measured the expression of 84 miRNAs in plasma from peripheral blood in 3 different groups based on LVA extent. Expression analysis showed that miR-486-5p was significantly increased in patients with broader LVA (4-fold, p = 0.0002; 5-fold, p = 0.0001). Receiver operating characteristic curve analysis showed that miR-486-5p expression could predict atrium LVA (AUC, 0.8958; p = 0.0015). Also, miR-486-5p plasma levels were associated with AF-type (AUC, 0.7137; p = 0.0453). In addition, miR-486-5p expression was positively correlated with LVA percentage, left atrial (LA) area, and LA volume (r = 0.322, p = 0.037; r = 0.372, p = 0.015; r = 0.319, p = 0.045, respectively). These findings suggest that miR-486-5p expression might have prognostic significance in LVA extent in patients with AFThis research was funded by Xunta de Galicia: Programa de Consolidación de Unidades de Investigación Competitivas do SUG (GRC 2019/02), the Centro Singular de Investigación de Galicia acreditación 2019–2022 (ED431G 2019/02), the European Union European Regional Development Fund (ERDF), and National Institute of Health Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII) Madrid, Spain (PI18/00821, CIBERCV CB16/11/00226 and FAISCA Intramural Project 2019)S

Optimal surgical timing after post-infarction ventricular septal rupture

Background: Ventricular septal rupture (VSR) following acute myocardial infarction (AMI) is a dan-gerous condition. Surgical VSR closure is the definitive therapy, but there is controversy regarding the surgical timing and the bridging therapy between diagnosis and intervention. The objective of this study is to analyze the ideal time of surgical repair and to establish the contribution of mechanical circulatory support (MCS) devices on the prognosis. Methods: We designed an observational, retrospective, multicenter study, selecting all consecutive patients with post-AMI VSR between January 1, 2008 and December 31, 2018, with non-exclusion criteria. The main objective of this study was to analyze the optimal timing for surgical repair of post-AMI VSR. Second- ary endpoints were to determine which factors could influence mortality in the patients of the surgical group. Results: A total of 141 patients were included. We identified lower mortality rates with an odds ratio of 0.3 (0.1 & ndash;0.9) in patients operated on from day 4 compared with the surgical mortality in the first 24 hours after VSR diagnosis. The use of MCS was more frequent in patients treated with surgery, par- ticularly for intra-aortic balloon pump (IABP; 79.6% vs. 37.8%, p < 0.001), but also for veno-arterial extracorporeal membrane oxygenation (VA-ECMO; 18.2% vs. 6.4%, p = 0.134). Total mortality was 91.5% for conservative management and 52.3% with surgical repair (p < 0.001). Conclusions: In our study, we observed that the lowest mortality rates in patients with surgical repair of post-AMI VSR were observed in patients operated on from day 4 after diagnosis of VSR, compared to earlier interventions. (Cardiol J 2022; 29, 5: 773 & ndash;781

Sex-related differences of fatty acid-binding protein 4 and leptin levels in atrial fibrillation

Aims: Adiposity plays a key role in the pathogenesis of atrial fibrillation (AF). Our aim was to study the sex differences in adipokines levels according to AF burden. Methods and results: Two independent cohorts of patients were studied: (i) consecutive patients with AF undergoing catheter ablation (n = 217) and (ii) a control group (n = 105). (i) Adipokines, oxidative stress, indirect autonomic markers, and leucocytes mRNA levels were analysed; (ii) correlation between biomarkers was explored with heatmaps and Kendall correlation coefficients; and (iii) logistic regression and random forest model were used to determine predictors of AF recurrence after ablation. Our results showed that: (i) fatty acid-binding protein 4 (FABP4) and leptin levels were higher in women than in men in both cohorts (P < 0.01). In women, FABP4 levels were higher on AF cohort (20 ± 14 control, 29 ± 18 paroxysmal AF and 31 ± 17 ng/mL persistent AF; P < 0.01). In men, leptin levels were lower on AF cohort (22 ± 15 control, 13 ± 16 paroxysmal AF and 13 ± 11 ng/mL persistent AF; P < 0.01). (ii) In female with paroxysmal AF, there was a lower acetylcholinesterase and higher carbonic anhydrase levels with respect to men (P < 0.05). (iii) Adipokines have an important role on discriminate AF recurrence after ablation. In persistent AF, FABP4 was the best predictor of recurrence after ablation (1.067, 95% confidence interval 1-1.14; P = 0.046). Conclusion: The major finding of the present study is the sex-based differences of FABP4 and leptin levels according to AF burden. These adipokines are associated with oxidative stress, inflammatory and autonomic indirect markers, indicating that they may play a role in AF perpetuation.This study was supported by projects (PI16/01282 and PI18/01584) integrated in the Plan Estatal de I+D+I 2016–2019 and cofounded by ISCIII-Subdirección General de Evaluación y Fomento de la Investigación del Fondo Europeo de Desarrollo Regional (FEDER). J.N.L.-C. and M.R.-M. were a recipient of a Sociedade Galega de Cardioloxía (SOGACAR) research grant. D.d.G.-C. was a recipient of a Juan de la Cierva-Incorporación grant from the Ministry of Science Innovation and Universities (IJCI-2016-29393). CIBER Cardiovascular (CB16/11/00403 to V.Ll.-C. and D.d.G.-C.) is a project from Carlos III Health Institute.Peer reviewe

Optimal surgical timing after post-infarction ventricular septal rupture

Background: Ventricular septal rupture (VSR) following acute myocardial infarction (AMI) is a dangerous condition. Surgical VSR closure is the definitive therapy, but there is controversy regarding the surgical timing and the bridging therapy between diagnosis and intervention. The objective of this study is to analyze the ideal time of surgical repair and to establish the contribution of mechanical circulatory support (MCS) devices on the prognosis. Methods: We designed an observational, retrospective, multicenter study, selecting all consecutive patients with post-AMI VSR between January 1, 2008 and December 31, 2018, with non-exclusion criteria. The main objective of this study was to analyze the optimal timing for surgical repair of post-AMI VSR. Secondary endpoints were to determine which factors could influence mortality in the patients of the surgical group. Results: A total of 141 patients were included. We identified lower mortality rates with an odds ratio of 0.3 (0.1–0.9) in patients operated on from day 4 compared with the surgical mortality in the first 24 hours after VSR diagnosis. The use of MCS was more frequent in patients treated with surgery, particularly for intra-aortic balloon pump (IABP; 79.6% vs. 37.8%, p &lt; 0.001), but also for veno-arterial extracorporeal membrane oxygenation (VA-ECMO; 18.2% vs. 6.4%, p = 0.134). Total mortality was 91.5% for conservative management and 52.3% with surgical repair (p &lt; 0.001). Conclusions: In our study, we observed that the lowest mortality rates in patients with surgical repair of post-AMI VSR were observed in patients operated on from day 4 after diagnosis of VSR, compared to earlier interventions

Hacia un proceso penal más reparador y resocializador: avances desde la justicia terapéutica

La obra que se presenta al lector trata de dar a conocer la Justicia Terapéutica a los investigadores y profesionales que trabajan en su día a día con personas que se enfrentan a un proceso penal, ya sea como víctima o victimario, para mostrarles una visión distinta de nuestro sistema de justicia penal que pueda ofrecer una respuesta más humana. Para cumplir ese objetivo, se inicia la obra con tres capítulos, que pueden considerarse introductorios, en los que se parte del concepto de Justicia Terapéutica desde sus orígenes en Estados Unidos, con las obras de los Profesores Wexler y Winick, para diferenciarla después de la justicia restaurativa y resaltar la importancia de formar a los operadores jurídicos en Justicia Terapéutica para de esta forma poner a su disposición nuevas herramientas en su quehacer diario que redunden en beneficio de quienes están involucrados en el proceso penal. A partir de aquí y a lo largo de los capítulos siguientes se van analizando las distintas figuras jurídicas propias del proceso penal y los programas de intervención con víctimas o victimarios que encajan con los postulados de la Justicia Terapéutica.Presentación / Esther Pillado González (pp. 11-12). -- Aproximación al concepto de justicia terapéutica / Esther Pillado González (pp. 13-24). -- Justicia restaurativa y justicia terapéutica: hacia una praxis reflexiva de transgresiones disciplinares / Gema Varona Martínez (pp. 25- 55). -- Formación de los operadores jurídicos en justicia terapéutica / Tamara Martínez Soto (pp. 57-90). -- Desistimiento en supuestos de delitos leves y conformidad como manifestaciones de justicia terapéutica / María Dolores Fernández Fustes (pp. 91-124). -- Mediación y justicia terapéutica / Silvia Barona Vilar (pp. 125-168). -- La denominada prisión provisional "atenuada" como manifestación de justicia terapéutica en el Derecho Español / Pablo Grande Seara (pp. 169-201). -- La protección de la víctima del delito desde el punto de vista de la justicia terapéutica / Izaskun Porres García (pp. 203-223). -- Prueba pericial psicológica en víctimas de violencia de género con enfoque de justicia terapéutica / Ramón Arce Fernández, Francisca Fariña Rivera, Mercedes Novo Pérez y Dolores Seijo Martínez (pp. 225-249). -- Evaluación e intervención con víctimas menores de edad desde la perspectiva de la justicia terapéutica. Especial referencia a las víctimas de abuso sexual infantil / Noemí Pereda Beltran y Mila Arch Marín (pp. 251-281). -- La función del juez en la determinación y ejecución de las sanciones penales privativas de libertad / Ignacio José Subijana Zunzunegui (pp. 283-311). -- A propósito de la suspensión ampliada de la pena: algunas notas sobre el acuerdo alcanzado en virtud de mediación / Fernando Vázquez-Portomeñe Seijas (pp. 313-338). -- La regulación de la libertad condicional para internos primarios: una lectura desde la justicia terapéutica / Natalia Pérez Rivas (pp. 339-372). -- Aplicación de la justicia terapeútica en la intervención con hombres que han ejercido violencia de género / Francisca Fariña Rivera, Mercedes Novo Pérez, Dolores Seijo Martínez y Ramón Arce Fernández (pp. 373-396). -- Intervención en agresores sexuales: aportaciones de la justicia terapéutica / Rui Abruhnosa Gonçalves (pp. 397-404). -- Próximos pasos en el desarrollo de la justicia terapéutica / David B. Wexler y Karla G. González Vázquez (pp. 405-412)

With flowers to La Atkins

Photobook, Flowers, Gardens, Vegetables, Plants, World Photobook Day, International Photobook Day, 2021Anna Atkins nos regaló un fotolibro de algas, maravillosamente azules, que son como flores del mundo subacuático. Este año, para celebrar el Día Internacional del Fotolibro 2021, os proponemos hacer un fotolibro colectivo que será como un ramo de flores para Anna. Se trata de hacer fotos a flores, hierbas, plantas, hierbajos, suculentas, cactus... Las fotos nos van a permitir poner en el ramo lo que más nos guste sin preocuparnos de los problemas que nos daría una pieza floral fresca. Podéis sacar la foto a una flor o planta viva, vuestra o de un jardín público o del campo Podéis fotografiar algo de un herbario o una flor prensada que guardabais dentro de un libro Podéis fotografiar una foto de una flor Podéis sacarle una foto a una flor de plástico Podéis fotografiar un dibujo o una pintura (con motivos florales o vegetales, claro) Podéis fotografiar una planta carnívora (en ayunas o haciendo la digestión) Podéis fotografiar flores del mal o del "buenri" Siempre que sea vegetal y/o floral entrará en este libro ramo para Anna. ¡Queremos tanto a Anna! Vamos a mandarle flores como para una boda, como para un fiestón, como para una diva de la ópera que no conoce las alergias y le cabe de todo en el camerino, como para la primavera que está comenzando en el Cono Sur. Organizan: Biblioteca de la Facultad de Bellas Artes de la UCM Photobook Club MadridFac. de Bellas Artesunpu

Perspectives on the Role of Magnetic Resonance Imaging (MRI) for Noninvasive Evaluation of Diabetic Kidney Disease

Renal magnetic resonance imaging (MRI) techniques are currently in vogue, as they provide in vivo information on renal volume, function, metabolism, perfusion, oxygenation, and microstructural alterations, without the need for exogenous contrast media. New imaging biomarkers can be identified using these tools, which represent a major advance in the understanding and study of the different pathologies affecting the kidney. Diabetic kidney disease (DKD) is one of the most important diseases worldwide due to its high prevalence and impact on public health. However, its multifactorial etiology poses a challenge for both basic and clinical research. Therefore, the use of novel renal MRI techniques is an attractive step forward in the comprehension of DKD, both in its pathogenesis and in its detection and surveillance in the clinical practice. This review article outlines the most promising MRI techniques in the study of DKD, with the purpose of stimulating their clinical translation as possible tools for the diagnosis, follow-up, and monitoring of the clinical impacts of new DKD treatments