Is “Self-Experience” Really a Transdiagnostic Concept? Preliminary Evidence in Favor of the Transdiagnostic Conception of Functional Analytic Psychotherapy

The authors would like to thank the University of Almeria's Contextual Therapies training program for the suggestions about the content of this article and financial support.Functional Analytic Psychotherapy (FAP) offers a radically behavioral and transdiagnostic conception of the formation of the “self” and the appearance of a diversity of psychological problems. This study examined the extent to which a wide variety of psychological disorders (somatization, obsessive–compulsive, interpersonal sensitivity, depression, anxiety, hostility/aggressiveness, phobic anxiety, paranoid ideation, and psychoticism) and a global index of psychopathological severity may in fact be linked to problems of the “self” according to the FAP conception. Two questionnaires, one related to self-experience according to FAP and the other to find the scores on several different psychopathology scales, were administered to 280 adult Spaniards for this purpose. The results confirmed the transdiagnostic nature of the “self”-experience. There are significant and strong correlations between all the psychopathology scales studied and self-experience. Linear regression analyses also show that, along with age and gender, in some cases, the score on self-experience predicts each and every one of the psychopathological variables studied, in addition to the Global Severity Index. These results are discussed and related to the transdiagnostic approach to psychopathology.University of Almeria's Contextual Therapies training progra

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

[Background]: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants. [Objectives]: To characterize the clinical and laboratory phenotype, and identifying the underlying molecular alteration, in a pedigree with thrombocytopenia of uncertain etiology. [Patients/Methods]: Index case was enrolled in our Spanish multicentric project of inherited platelet disorders due to lifelong thrombocytopenia and bleeding. Bleeding score was recorded by ISTH‐BAT. Laboratory phenotyping consisted of blood cells count, blood film, platelet aggregation and flow cytometric analysis. Genotyping was made by whole‐exome sequencing (WES). Cytoskeleton proteins were analyzed in resting/spreading platelets by immunofluorescence and immunoblotting. [Results]: Five family members displayed lifelong mild thrombocytopenia with a high number of enlarged platelets in blood film, and mild bleeding tendency. Patient's platelets showed normal aggregation and granule secretion response to several agonists. WES revealed a novel nonsense variant (c.322C>T; p.Gln108*) in TPM4 (NM_003290.3), the gene encoding for tropomyosin‐4 (TPM4). This variant led to impairment of platelet spreading capacity after stimulation with TRAP‐6 and CRP, delocalization of TPM4 in activated platelets, and significantly reduced TPM4 levels in platelet lysates. Moreover, the index case displayed up‐regulation of TPM2 and TPM3 mRNA levels. [Conclusions]: This study identifies a novel TPM4 nonsense variant segregating with macrothrombocytopenia and impaired platelet cytoskeletal remodeling and spreading. These findings support the relevant role of TPM4 in thrombopoiesis and further expand our knowledge of TPM4‐related thrombocytopenia.This work was partially supported by grants from Instituto de Salud Carlos III (ISCIII) and Feder (PI17/01966, PI20/00926), Gerencia Regional de Salud (GRS2061A/19, GRS2135/A/2020, GRS2314/A/2021), Fundación Mutua Madrileña (FMM, AP172142019) and Sociedad Española de Trombosis y Hemostasia (SETHFETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2020 and 2021).Peer reviewe

Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model

RUNX1-related disorder (RUNX1-RD) is caused by germline variants affecting the RUNX1 gene. This rare, heterogeneous disorder has no specific clinical or laboratory phenotype, making genetic diagnosis necessary. Although international recommendations have been established to classify the pathogenicity of variants, identifying the causative alteration remains a challenge in RUNX1-RD. Murine models may be useful not only for definitively settling the controversy about the pathogenicity of certain RUNX1 variants, but also for elucidating the mechanisms of molecular pathogenesis. Therefore, we developed a knock-in murine model, using the CRISPR/Cas9 system, carrying the RUNX1 p.Leu43Ser variant (mimicking human p.Leu56Ser) to study its pathogenic potential and mechanisms of platelet dysfunction. A total number of 75 mice were generated; 25 per genotype (RUNX1WT/WT, RUNX1WT/L43S, and RUNX1L43S/L43S). Platelet phenotype was assessed by flow cytometry and confocal microscopy. On average, RUNX1L43S/L43S and RUNX1WT/L43S mice had a significantly longer tail-bleeding time than RUNX1WT/WT mice, indicating the variant's involvement in hemostasis. However, only homozygous mice displayed mild thrombocytopenia. RUNX1L43S/L43S and RUNX1WT/L43S displayed impaired agonist-induced spreading and α-granule release, with no differences in δ-granule secretion. Levels of integrin αIIbβ3 activation, fibrinogen binding, and aggregation were significantly lower in platelets from RUNX1L43S/L43S and RUNX1WT/L43S using phorbol 12-myristate 13-acetate (PMA), adenosine diphosphate (ADP), and high thrombin doses. Lower levels of PKC phosphorylation in RUNX1L43S/L43S and RUNX1WT/L43S suggested that the PKC-signaling pathway was impaired. Overall, we demonstrated the deleterious effect of the RUNX1 p.Leu56Ser variant in mice via the impairment of integrin αIIbβ3 activation, aggregation, α-granule secretion, and platelet spreading, mimicking the phenotype associated with RUNX1 variants in the clinical setting.This work was partially supported by grants from Instituto de Salud Carlos III (ISCIII) and Feder (PI17/01311, PI17/01966, and CB15/00055), Fundación Séneca (19873/GERM/15), Gerencia Regional de Salud (GRS 2061A/19 and 1647/A/17), Fundación Mutua Madrileña (FMM, AP172142019), and Sociedad Española de Trombosis y Hemostasia (SETH-FETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2019). The authors' research on IPDs is conducted in accordance with the aims of the Functional and Molecular Characterization of Patients with Inherited Platelet Disorders Project, which is supported by the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis. A.M.-Q., C.F.-I., and L.H.-C. were supported by predoctoral grants from the Junta de Castilla y León, Spain. E.V. was supported by the predoctoral grant from the University of Salamanca, Spain. IG-T and RB were supported by "Contratos postdoctorales Programa II) from the University of Salamanca, Spain

The relationship between jumping to conclusions and social cognition in first-episode psychosis

Altres ajuts: Obra Social La Caixa (RecerCaixa call 2013), and Obra Social Sant Joan de Déu (BML), Generalitat de Catalunya, Health Department, PERIS call (SLT006/17/00231), and the CERCA Programme/Generalitat de Catalunya. Andalusian Regional Ministry of Health, grant PI-0634/2011Jumping to conclusions (JTC) and impaired social cognition (SC) affect the decoding, processing, and use of social information by people with psychosis. However, the relationship between them had not been deeply explored within psychosis in general, and in first-episode psychosis (FEP) in particular. Our aim was to study the relationship between JTC and SC in a sample with FEP. We conducted a cross-sectional study with 121 patients with FEP, with measures to assess JTC (easy, hard, and salient probability tasks) and SC (emotional recognition, attributional style, and theory of mind). We performed Student's t-test and logistic regression in order to analyse these associations.We found a statistically significant and consistent relationship of small-moderate effect size between JTC (all three tasks) and impaired emotional recognition. Also, our results suggest a relationship between JTC and internal attributions for negative events. Relationships between JTC and theory of mind were not found. These results highlight the importance of psychological treatments oriented to work on a hasty reasoning style and on improving processing of social information linked to emotional recognition and single-cause attributions

Reflexiones desde el Desarrollo Regional

Capítulo 1: Rescatando el patrimonio cultural regional. Contenido: "Divulgación de las prácticas socioculturales relacionadas con la conservación, reproducción y usos que se da al cohombro (sicana odorifera) en diferentes comunidades de la Región de Occidente, Costa Rica" de Anyerline Marín Alfaro; "La fotografía como recurso documental para la reconstrucción visual de espacios históricos de San Ramón, Alajuela de 1890 a 1924" de María Verónica Solano Araya y Gustavo Fernández Jiménez. Capítulo 2: Estudios literarios reginales. Contenido: "Leolinda Daltro: Mujer, educadora e indigenista del siglo XIX" de Khellen Cristina Pires Correia Soares y Beleni Salete Grando; "Paratextualidad y discursos en 'Un viaje con Margareth'" de Yordan Arroyo Carvajal. Capítulo 3: Retos para el desarrollo desde lo regional. Contenido: "Estado de la situación de las microempresas en tres distritos del cantón de San Ramón, Alajuela" de Jeannette Morales Zumbado; "Capacidades de gobernanza e institucionalidad en los Consejos Cantonales de Coordinación Institucional" de Raúl Fonseca Hernández, Ana Cristina Quesada Monge y Ginnette Espinoza Palma; "Teorización de la propuesta de Desarrollo Humano Sostenible Local" de Ana Cristina Quesada Monge, Raúl Fonseca Hernández y María Fernanda Cortés Víquez. Capítulo 4: Medio ambiente y desarrollo. Contenido: "Gestión integrada del recurso hídrico (GIRH) y cambio climático en la parte alta de la microcuenca del río Poás, Alajuela (2019-2020)" de María José Chassoul Acosta, Ana Lorena Salmerón Alpízar y Rolando Alberto Marín León; "Estado de situación de las Organizaciones Comunitarias de Servicios de Agua y Saneamiento (OCSAS) en el cantón de San Ramón, Alajuela" de Adriana Muñoz Amores, Ana Carolina Méndez Montero y Jéssica Alejandra Mora Moya. Capítulo 5: Realidades socioeducativas. Contenido: "Competencias culturales en docentes y éxito académico en colegiales de diferentes orígenes étnico-culturales" de Carlos Yurán Chavarría Carranza; "Narrativas sexistas en el trap latinoamericano: Lenguaje, representaciones y apropiación" de Keylor Robles Murillo. Capítulo 6: En busca del bienestar de la población adulta mayor. Contenido: "La protección constitucional brasileña de la persona adulta mayor" de Juliana Mara Nespolo, Rodrigo Bordin y Maria de Lourdes Bernartt; "Danza, escritura y autobiografía en personas adultas mayores" de Andrea Molina Ovares y Damián Herrera González.El Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales busca, por medio de actividades académicas como coloquios internacionales, reunir a personas investigadoras de las sedes regionales de la Universidad de Costa Rica y de otras instituciones de educación superior a nivel nacional, regional e internacional, con el fin de propiciar encuentros de saberes que permitan compartir experiencias académicas e investigativas relacionadas con diversidad cultural y estudios regionales. Asimismo, gracias a su compromiso de contribuir en la comprensión y visibilización de los procesos culturales y los imaginarios regionales desde perspectivas inter, trans y multidisciplinarias para aportar al desarrollo integral de los distintos grupos humanos que conforman las sociedades actuales, realiza la divulgación de los hallazgos de este tipo de investigaciones, a través de publicaciones especiales. Es así como la presente publicación, derivada del VI Coloquio Internacional sobre Diversidad Cultural y Estudios Regionales desarrollado por el CIDICER en septiembre de 2021, compila trece artículos y ensayos, los cuales están organizados en seis capítulos que responden a diferentes áreas temáticasUniversidad de Costa Rica/[836-C0-723]/UCR/Costa RicaUCR::Sedes Regionales::Sede de Occidente::Recinto San Ramón::Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales (CIDICER

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the SORL1 gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and SORL1 mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in SORL1, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the SORL1 gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of SORL1-associated AD and suggest that SORL1 might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene.This work was supported by the Instituto de Salud Carlos III (PI17/01067) and AGAUR from the Autonomous Catalan Government (2017SGR1134). Dr. Víctor Antonio Blanco-Palmero is supported by the Instituto de Salud Carlos III (ISCIII, Spanish Biomedical Research Institute) through a “Río Hortega” contract (CM18/0095). Dr. Sara Llamas-Velasco is supported by the Instituto de Salud Carlos III (ISCIII; Spanish Biomedical Research Institute) through a “Juan Rodés” contract (JR 18/00046).S

Enfermedades crónicas

Adherencia al tratamiento farmacológico y relación con el control metabólico en pacientes con DM2Aluminio en pacientes con terapia de reemplazo renal crónico con hemodiálisis en Bogotá, ColombiaAmputación de extremidades inferiores: ¿están aumentando las tasas?Consumo de edulcorantes artificiales en jóvenes universitariosCómo crecen niños normales de 2 años que son sobrepeso a los 7 añosDiagnóstico con enfoque territorial de salud cardiovascular en la Región MetropolitanaEfecto a corto plazo de una intervención con ejercicio físico, en niños con sobrepesoEfectos de la cirugía bariátrica en pacientes con síndrome metabólico e IMC < 35 KG/M2Encuesta mundial de tabaquismo en estudiantes de profesiones de saludEnfermedades crónicas no transmisibles: Consecuencias sociales-sanitarias de comunidades rurales en ChileEpidemiología de las muertes hospitalarias por patologías relacionadas a muerte encefálica, Chile 2003-2007Estado nutricional y conductas alimentarias en adolescentes de 4º medio de la Región de CoquimboEstudio de calidad de vida en una muestra del plan piloto para hepatitis CEvaluación del proceso asistencial y de resultados de salud del GES de diabetes mellitus 2Factores de riesgo cardiovascular en población universitaria de la Facsal, universidad de TarapacáImplicancias psicosociales en la génesis, evolución y tratamiento de pacientes con hipertensión arterial esencialInfarto agudo al miocardio (IAM): Realidad en el Hospital de Puerto Natales, 2009-2010Introducción de nuevas TIC y mejoría de la asistencia a un programa de saludNiños obesos atendidos en el Cesfam de Puerto Natales y su entorno familiarPerfil de la mortalidad por cáncer de cuello uterino en Río de JaneiroPerfil del paciente primo-consultante del Programa de Salud Cardiovascular, Consultorio Cordillera Andina, Los AndesPrevalencia de automedicación en mujeres beneficiarias del Hospital Comunitario de Til-TiPrevalencia de caries en población preescolar y su relación con malnutrición por excesoPrevalencia de retinopatía diabética en comunas dependientes del Servicio de Salud Metropolitano Occidente (SSMOC)Problemas de adherencia farmacológica antihipertensiva en población mapuche: Un estudio cualitativoRol biológico de los antioxidantes innatos en pacientes portadores de VIH/SidaSobrepeso en empleados de un restaurante de una universidad pública del estado de São Paul

Estudos Artísticos

Há um compromisso entre o artista e a sociedade. Não é possível retirar a arte do seu contexto social. Neste projecto, em que se desafiam os criadores a pesquisar a obra de outros criadores, reúnem-se aqueles artigos que melhor demonstram a responsabilidade e a solidariedade entre os criadores e os seus pares sociais. São obras, artistas, projetos, plataformas de intervenção, projetos que enfatizam as relações sociais como suporte. Sob esta temática geral foram reunidos 25 artigos para este número 6 da Revista Croma, em linhas de exploração variadas e mantendo a elevada internacionalização da revista: mais de noventa por cento das publicações são exógenas à Faculdade de Belas-Artes da Universidade de Lisboa ou do CIEBA, a sua unidade de investigação. Este é um indicador procurado e atingido de modo consistente em todos os exemplares publicados até hoje, e que se espera poder afirmar com continuidade. As diferentes perspetivas apresentadas nos variados artigos expõe a obra de autores que exploram dimensões relacionais ou perante as quais o espectador é convocado a deslocar o seu posicionamento, a desassossegar-se. A implicação surge como resultado da articulação expressiva dos recursos mais variados, em constante mistura, exibindo o modo como as dimensões materiais e ideais são fundadoras das diversas propostas. Nesta revista não há indiferença, há diferenças.info:eu-repo/semantics/publishedVersio