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Early detection of recurrences in gynecological cancers is crucial for women's health. Circulating tumor DNA (ctDNA) analysis through liquid biopsy offers a promising approach for monitoring disease progression and identifying relapses. This study investigated the utility of digital Polymerase Chain Reaction (dPCR) for ctDNA detection in three gynecological cancer patients with clinically confirmed relapses during a two-year post-surgical follow-up. Patient-specific tumor mutations were identified through whole-exome sequencing (WES) and confirmed via Sanger sequencing. dPCR probes targeting these mutations were used to quantify the ctDNA levels in plasma samples collected throughout the follow-up period, and the findings were compared with standard serum biochemical markers. In two patients, persistent positive dPCR signals for the selected mutations were detected after tumor removal, with ctDNA levels progressively increasing even after post-surgical chemotherapy. Notably, dPCR identified elevated ctDNA levels before an increase in the cancer antigen 125 (CA125) biochemical marker was observed. In the third patient, no ctDNA signals from the two selected mutations were detected despite clinical evidence of recurrence, suggesting the emergence of new mutations. While this study highlights the promise of dPCR for early recurrence detection in gynecological cancers, it also underscores the critical need for comprehensive mutation panels to overcome the inherent challenges posed by tumor heterogeneity and the emergence of new mutations during disease progression. [ABSTRACT FROM AUTHOR]

The social, political and educational reality in Brazil, in recent years, has demanded new positions from the field that articulates Psychoanalysis and Education in the country. This article seeks ways for Psychoanalysis, as a critical theory, in dialogue with the field of education and politics, to contribute to a better understanding of the social symptoms that appear in educational issues and, in particular, in the wave of violence that currently plagues educational institutions. We understand that the recent attacks on schools have to be seen in the context of several other attacks, from the historical lack of investment in education in the country, to the spectre of death that surrounds everyday school life, with the high rates of homicides and suicides in adolescents - expressions and consequences of necropolitics and the suicidal state that is installed in Brazilian society. When discussing educational aspects, we necessarily need to articulate issues of science, nature, economics and politics. By way of conclusion, this paper provokes the need to transmit to young people the desire to imagine other worlds and dream other dreams. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

MED13‐related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8‐kinase module genes‐associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13‐year‐old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13‐related condition and to explore differences and similarities between KS spectrum and MED13‐related disorders. [ABSTRACT FROM AUTHOR]

Copyright of Revista Psicologia Clínica is the property of Faculdades Catolicas - Pontificia Universidade Catolica do Rio de Janeiro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO). Methods: The coding regions of FBLIM1 gene were sequenced in a cohort of 80 patients with CNO using DNA extracted from blood lymphocytes, and PCR products were sequenced. Only rare (global MAF < 2%), coding variants detected were considered. Clinical evaluation of patients with rare variants and those without was performed. Fisher's exact test was used to compare categorical and ordinal data, and Student's t-test was used to analyze continuous data. Results: Eighteen out of 80 patients (~ 22%) presented at least one rare coding variant in FBLIM1. Eight patients presented a variant never associated before with CNO. All patients presented classical features of CNO and no statistical difference between patients with presence of FBLMI1 variants and those without were found in terms of clinical manifestation, treatment, and outcome. Conclusion: Considering the high frequency of rare variants in our CNO cohort, our data seem to confirm a possible role of FBLIM1 in the pathogenesis of CNO suggesting that CNO is a disorder of chronic inflammation and imbalanced bone remodeling. [ABSTRACT FROM AUTHOR]

Examinando a base conceitual da obra freudiana sobre a interpretação-sonho (Traumdeutung), o trabalho procura caracterizar alguns elementos para uma metapsicologia da interpretação psicanalítica. Conclui que da mesma maneira que o sonho, a interpretação aponta para as vicissitudes do manejo da angústia, no sentido de facilitar as vias de expressão e mobilidade do desejo.