Robotic approach to remove four tailgut cyst cases in Brazil: a case series

ABSTRACT Tailgut cysts are rare congenital lesions that are remnants of the embryonic hindgut. This abnormality presents with non-specific symptoms or no symptoms; therefore, misdiagnosis is common. Here, we present four cases of tailgut cysts that were successfully removed using a robotic surgical approach. A 42-year-old woman with tenesmus, pain in the right gluteal region, and discomfort in the rectal region during evacuation was referred to our medical center. Another patient was a 28-year-old woman who presented with the same symptoms to our general practitioner. Both patients underwent upper abdominal and pelvic magnetic resonance imaging that revealed a tailgut cyst. Further, a 36-year-old woman was referred with coccyx and hypogastric pain. Magnetic resonance imaging revealed two pararectal cystic formations. She underwent robot-assisted surgery, and after analysis by a pathologist, the conclusion was that the tailgut cyst was associated with scarring fibrosis. A 55-year-old woman with posterior epigastric pelvic pain associated with heartburn underwent robot-assisted surgery to resect a retroperitoneal tumor. These cases highlighted the importance of tailgut cysts in the differential diagnosis of rectal lesions. Surgical treatment is preferred because malignant transformations can occur. The difference between laparoscopic and robotic approaches is the better visualization and stability of the latter, inducing less tissue damage. Robotic resection is a safe procedure, especially in patients with a narrow pelvis, because it reduces tissue damage.

Distractibility, anxiety, irritability, and agitation symptoms are associated with the severity of depressive and manic symptoms in mixed depression

Objective: To explore whether there is an association between distractibility, anxiety, irritability, and agitation (DAIA) symptoms and the severity of depressive and manic symptoms. Methods: Patients with unipolar and bipolar disorder (I and II) and mixed depression were evaluated. DAIA symptoms were assessed using previously described definitions. Results: The full analysis set comprised 100 patients. The severity of depressive symptoms in mixed depression, assessed by Montgomery-Åsberg Depression Rating Scale (MADRS), was significantly associated with the presence of two or more DAIA symptoms in the bipolar sample, influenced mainly by anxiety. The severity of manic symptoms in mixed depression, assessed by Young Mania Rating Scale (YMRS), was significantly associated with the presence of two or more DAIA symptoms in the bipolar sample and three or four DAIA symptoms in the unipolar sample. Conclusion: DAIA symptoms were associated with greater severity of manic symptoms in mixed depression. DAIA symptoms must be evaluated in all patients with mixed features and are associated with the severity of depressive and manic symptoms in mixed depression. Clinical trial registration: ClinicalTrials.gov (NCT04123301).

Hipoacusia como primera manifestación de granulomatosis con poliangeítis

Introducción: Las vasculitis asociadas a anticuerpos anti citoplasma de neutrófilos (ANCA) son entidades clínicas poco frecuentes con manifestaciones amplias que se asocian a retos diagnósticos. El tratamiento oportuno se asocia a mejoría pronóstica significativa. Caso clínico: Femenina de 45 años que acude con síntomas constitucionales de 2 meses de evolución, asociado en las últimas 2 semanas a hipoacusia progresiva. Se evidencia lesión renal aguda asociada a datos de sedimento urinario activo. El perfil inmune solicitado resultó positivo para ANCA PR-3, y la biopsia renal confirma el diagnóstico de Granulomatosis con Poliangeitis. Se inicia tratamiento inmunosupresor con ciclofosfamida, con poca mejoría de la función renal y requerimiento de hemodiálisis crónica.  La amplia variedad de manifestaciones clínicas asociadas a las vasculitis ANCA conducen a la incapacidad de diagnosticarlas tempranamente y la hipoacusia, aunque descrita, es una manifestación inicial poco frecuente. Conclusión: Las VAA son entidades clínicas poco frecuentes y cuando se presentan con manifestaciones atípicas, suelen ser un reto diagnóstico. Resulta imperativo considerarla en casos de síntomas constitucionales, asociados a manifestaciones renales, otorrinolaringológicas y pulmonares. (provisto por Infomedic International)

Introduction: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare clinical entities with broad manifestations that are associated with diagnostic challenges. Prompt treatment is associated with significant prognostic improvement. Case report: 45-year-old female presenting with constitutional symptoms of 2 months of evolution, associated in the last 2 weeks with progressive hypoacusis. Acute renal lesion associated with active urinary sediment data was evidenced. The requested immune profile was positive for ANCA PR-3, and the renal biopsy confirmed the diagnosis of Granulomatosis with Polyangiitis. Immunosuppressive treatment with cyclophosphamide was started, with little improvement in renal function and requiring chronic hemodialysis. The wide variety of clinical manifestations associated with ANCA vasculitis lead to the inability to diagnose them early and hypoacusis, although described, is a rare initial manifestation. Conclusion: AAV are rare clinical entities and when they present with atypical manifestations, they are often a diagnostic challenge. It is imperative to consider it in cases of constitutional symptoms, associated with renal, otorhinolaryngologic and pulmonary manifestations. (provided by Infomedic International)

Desempeño del método de suma de discos comparado con el método bidimensional en la estimación cuantitativa del derrame pericárdico / Performance of the method of disks compared to the bidimensional method in the quantitative estimation of pericardial effusion

Resumen Introducción: La ecocardiografía bidimensional es la técnica más efectiva para el diagnóstico del derrame pericárdico, gracias a sus altas sensibilidad y especificidad. Objetivo: Analizar la superioridad del método de suma de discos comparado con el método bidimensional en la estimación del derrame pericárdico por medio de ecocardiografía, tomando como referencia el volumen de líquido pericárdico extraído por pericardiocentesis o cirugía abierta. Método: Estudio retrospectivo de seguimiento de una cohorte basado en registros médicos y archivos de ecocardiografía. Se empleó un diseño pareado en el que cada imagen fue leída por el método bidimensional y por el método de suma de discos. Se incluyeron derrames pericárdicos graves, definidos clínicamente o por parámetros ecocardiográficos, que requirieran drenaje. El desempeño de los métodos de estimación bidimensional y de suma de discos, tomando como referencia la extracción por intervención, se cuantificó mediante áreas bajo la curva operador-receptor (auROC). Resultados: Se analizaron 40 registros, tomando como referencia el volumen obtenido por extracción; con un auROC de 0.81 (intervalo de confianza del 95% [IC95%]: 0.73-0.89), el desempeño diagnóstico del método de suma de discos fue significativamente mayor (p = 0.0335) que el del método bidimensional (auROC: 0.73; IC95%: 0.63-0.83). La estimación realizada por el método de suma de discos subestimó en promedio 51.3 ml (IC95%: −156.2-53.5). Conclusiones: En pacientes con derrame pericárdico e indicación de drenaje o taponamiento cardíaco, el método de suma de discos es superior en comparación con el método bidimensional en el estudio ecocardiográfico para la estimación cuantitativa del derrame pericárdico, ya que discrimina mejor respecto al método bidimensional.

Abstract Introduction: Two-dimensional echocardiography is the most effective technique for diagnosing pericardial effusion due to its high sensitivity and specificity. Objective: The superiority of the method of disks was compared with the bidimensional method in the estimation of pericardial effusion by echocardiography, taking as reference the volume of pericardial fluid removed by pericardiocentesis or open surgery. Method: Retrospective follow-up study of a cohort, based on medical records and echocardiography files. A paired design was used, each image was read by the bidimensional method and by the method of disks. Severe pericardial effusions defined clinically or by echocardiographic parameters, that required drainage were included. The performance of the bidimensional and disks estimation methods, taking the volume removed as a reference, was quantified using areas under the receiver operating characteristic curve (auROC). Results: 40 records were analyzed, taking as a reference the volume obtained by extraction, with an auROC of 0.81 (95% CI: 0.73-0.89) the diagnostic performance of the disks method was significantly higher (p = 0.0335) than the bidimensional method (auROC 0.73, 95% CI: 0.63-0.83). The estimate made by the disks method underestimated an average of 51.3 ml (95% CI: -156.2-53.5). Conclusions: In patients with pericardial effusion with indication of cardiac drainage or tamponade, the disks method is superior in comparison with the bidimensional method in the echocardiographic study of the quantitative estimation of pericardial effusion, discriminating better than the bidimensional method.

Incisional hernia after bariatric surgery: only the physical examination is enough? / Hérnia incisional após a cirurgia bariátrica: apenas o exame físico é suficiente?

ABSTRACT BACKGROUND: Incisional hernia is characterized by a bulging of the abdominal wall caused by the prolapse of intracavitary structures, such as a segment of the small intestine, through the trocar orifice. Ultrasonography and physical examination are used in the diagnosis of incisional hernia. AIMS: This study aimed to evaluate the difference between physical examination and abdominal ultrasonography at the diagnosis of incisional hernia in patients who underwent laparoscopic bariatric surgery. METHODS: A total of 123 patients who underwent Roux-en-Y gastric bypass type bariatric surgery performed by laparoscopy were analyzed for the presence or absence of hernia by physical and ultrasonography examination at each trocar incision site. RESULTS: In our results, a total of 7 hernias were detected by physical examination, while ultrasonography detected a total of 56 hernias in at least one of the incision sites. Lin's concordance analysis showed that the tests are not concordant. The association between body mass index and hernia detection (p=0.04 for physical examination and p=0.052 for ultrasonography) was observed. Ultrasonography detected more incisional hernias in 10-mm or larger trocars than in 5-mm trocars (p<0.0001, p<0.05). No differences were noted among the trocar types that were used. CONCLUSIONS: Abdominal ultrasonography showed to have a higher accuracy than physical examination, resulting in a substantial increase in incisional hernia detection at the trocar sites.

RESUMO RACIONAL: A hérnia incisional é caracterizada por um abaulamento da parede abdominal causada por um prolapso das estruturas intracavitárias, como um segmento do intestino delgado, através de um orifício de trocarte. A ultrassonografia e o exame físico são usados no diagnóstico da hérnia incisional. OBJETIVOS: Avaliar a diferença entre o exame físico e a ultrassonografia abdominal no diagnóstico da hérnia incisional em pacientes submetidos a cirurgia bariátrica por videolaparoscopia. MÉTODOS: O total de 123 pacientes submetidos à cirurgia bariátrica, tipo derivação gástrica em Y de Roux, foram avaliados para a presença ou ausência de hérnia incisional por exame físico e ultrassonografia, nos sítios incisionais de cada trocarte. RESULTADOS: O total de sete hérnias foram detectados por exame físico, enquanto a ultrassonografia detectou um total de 56 hérnias em pelo menos um sítio incisional. A análise de concordância de Lin mostrou que os testes empregados não são concordantes. A associação entre o Índice de Massa Corpórea e a detecção de hérnia foi observada (p=0.04, para exame físico, p=0.052 para ultrassonografia). A ultrassonografia detectou mais hérnias incisionais em trocartes de 10 mm ou mais do que em trocartes de 5 mm (p<0,0001, p<0.05). Não foi observada diferença entre os tipos de trocartes empregados. CONCLUSÕES: A ultrassonografia abdominal demonstrou ter acurácia mais elevada que o exame físico, resultando em um aumento substancial na detecção de hérnia incisional nos locais de inserção dos trocartes.

De la resistencia a la transformación: una revisión de la resiliencia en el deporte / From Resistance to Transformation: A Review of Resilience in Sports

Resumen Se realizó una revisión de literatura acerca de los aportes investigativos de la resiliencia en el deporte entre los años de 2010 y 2020 en una muestra de 239 artículos que respondieron a criterios de inclusión como: artículos originales, de revisión de literatura, estudios cualitativos, cuantitativos o mixtos publicados; tesis o trabajos de grado y capítulos de libro. La búsqueda se realizó en las bases de datos de PubMed, Ebsco Host, Science Direct, Scopus, PsyINFO. Se encontró que la investigación y aportes de la resiliencia en el deporte son numerosos y aplicados a una gran diversidad de modalidades deportivas y a nivel de actividad física, deporte formativo y competitivo. Se encontraron predominantemente estudios cuantitativo-descriptivos; sin embargo se destacan diversos enfoques metodológicos. Se observó además que los estudios se orientaron hacia las poblaciones de adultos y adolescentes, y un tercer foco de interés son las revisiones de literatura. Los campos en los que se exploró la resiliencia en el deporte se asociaron al desempeño en competencia, afrontamiento de la adversidad, situaciones estresantes, o de burn out, como dimensión motivacional. Se concluye con la necesidad de realizar estudios específicos por práctica deportiva, tipos de deporte y fenómenos psico-sociales relacionados como la influencia de la recuperación de lesiones, estados anímicos y situaciones adversas extradeportivas y extra-competición.

Abstract A literature review was conducted on the research contributions on resilience in sports between 2010 and 2020 in a sample of 239 articles, which responded to inclusion criteria such as original articles; literature reviews; qualitative, quantitative, or mixed published studies; thesis or degree works; and book chapters. The search was carried out in PubMed, Ebsco Host, Science Direct, Scopus, and PsycINFO databases. It was found that research and contributions on resilience in sports are numerous and applied to a great diversity of sports modalities and at the level of physical activity and formative and competitive sports. Quantitative-descriptive studies were predominantly found; however, different methodological approaches are highlighted. It was also observed that the studies were oriented towards adult and adolescent populations, and a third focus of interest is literature reviews. The fields in which resilience in sports was explored were associated with performance in competition, coping with adversity, stressful situations, or burnout, as a motivational dimension. It is concluded that it is necessary to carry out specific studies by sports practice and types of sports, and the related psycho-social phenomena, such as the influence of injury recovery, moods, and adverse extra-sports and extra-competition situations.

Cardiomiopatía hipertrófica apical: revisión de la literatura y presentación de caso / Apical hypertrophic cardiomyopathy: literature review and presentation of case

Resumen La cardiomiopatía hipertrófica apical es una forma poco común de cardiomiopatía hipertrófica que se caracteriza por un compromiso, casi exclusivo, del ápice ventricular izquierdo, y se distingue por la morfología de as de picas en la ventriculografía. La heterogeneidad y la variabilidad en la presentación de esta patología y de su curso clínico hacen que sea un diagnóstico fácilmente omitido. Describimos el caso clínico de un paciente con cardiomiopatía hipertrófica apical que debutó con dolor precordial típico y síncope de origen cardiogénico. El propósito de este reporte es revisar las características principales de una afección poco frecuente, incluyendo su epidemiologia, diagnóstico, pronóstico y tratamiento, y así facilitar al personal médico el momento en que se enfrente a ella en la práctica clínica.

Abstract Apical hypertrophic cardiomyopathy is an uncommon form of hypertrophic cardiomyopathy characterized by a compromise of the left ventricular apex and is distinguished by the ace morphology in the ventriculography. The heterogeneity and variability in the presentation of this pathology and the clinical course, make a diagnosis easily omitted. We describe a clinical case of a patient with apical hypertrophic cardiomyopathy that debuted with precordial pain and syncope of cardiogenic origin. The purpose of this report is to review the main characteristics of a rare pathology, epidemiology, diagnosis, prognosis and treatment and thus, to provide medical personnel with the approach of this pathology in clinical practice.

Panorama científico de la relación entre la violencia intrafamiliar y de género y la resiliencia familiar: posibilidades, retos y límites / Scientific Overview of the Relation between Domestic and Gender Violence and Family Resilience: Possibilities, Challenges and Limits

Resumen En el marco de la investigación titulada "Resiliencia en víctimas de violencia intrafamiliar y de género Fase 1", realizada por el programa de Psicología de la Universidad Santo Tomás de Aquino (Bogotá, Colombia), se realizó una revisión de literatura, que describió el estado del arte de las investigaciones y estudios reflexivos publicados entre los años de 2015 y 2019 con respecto a la resiliencia familiar frente a la violencia intrafamiliar y de género (vifg). Se obtuvieron resultados preliminares de 3160 documentos, que fueron depurados a 74 artículos, que respondieron a criterios de inclusión como: Artículos Originales, de Reflexión, Revisión de literatura, Estudios Cualitativos, Cuantitativos o Mixtos publicados entre 2015 y 2019. La búsqueda se realizó en las bases de datos: PubMed, Ebsco Host, Science Direct, Scopus, Psyinfo, sage, Sprinter, y Taylor & Francis. Se encontró una tendencia de estudios aplicados, cualitativos, descriptivos con población participante femenina, infantil y adolescente con reporte de violencia intrafamiliar, realizados en Estados Unidos, Reino Unido y Canadá. Sin embargo, se pudo observar que la literatura hace referencia indirecta a la resiliencia familiar, pues en mayor medida se refiere al afrontamiento, recuperación y factores protectores, como fenómenos de interés relacionados con la vifg. Se concluye que aún son pocos los estudios en los que se incluya explícitamente el fenómeno del género en la vif, que describen la emergencia de la resiliencia familiar y alternativas de intervención para su desarrollo.

Abstract In the frame of the first phase of the research titled "Resilience in Victims of Domestic and Gender Based Violence", carried out by the Psychology academic program at the Santo Tomas University (Bogota, Colombia), a literature review was carried out which described the State of the Art of studies published between 2015 and 2019 regarding Family Resilience against Domestic and Gender-based Violence. There were preliminary results gathered from 3160 documents, which were later reduced to 74 articles according to the following criteria: original articles, rational thinking, literature review, and qualitative data, quantitative data, or mixed methods research published between 2015 and 2019. The research was carried out using the following Databases: PubMed, Ebsco Host, Science Direct, Scopus, PsyINFO, sage, Sprinter, and Taylor & Francis. A particular trend has been identified as a result of the research, with a large set of studies using mostly applied, qualitative and descriptive data of female, child and teenager participants who have reported cases of domestic violence, conducted in the United States, the United Kingdom, and Canada. However, it was observed that the literature makes indirect reference to family resilience, since for the most part it refers to coping mechanisms, recovery, and protective factors as phenomena of interest related to Domestic and Gender-based Violence. It is concluded that there are still very few studies which, while describing the emergence of family resilience and intervention alternatives for its development, explicitly include a gender approach or gender-related elements in cases of domestic violence.

SIGMA-VB: Validity and reliability of the Brazilian Portuguese version of the Montgomery-Åsberg Depression Rating Scale using the Structured Interview Guide for the MADRS

Objective: The Montgomery-Åsberg Depression Rating Scale (MADRS) is widely used to assess depression severity. The Structured Interview Guide for the MADRS (SIGMA) was created to standardize MADRS assessment. The objective of this study was to translate and validate the original SIGMA into a Brazilian Portuguese version (SIGMA-VB). Methods: We translated and cross-culturally validated the original SIGMA into the SIGMA-VB, and assessed its psychometric properties using data from 93 adult outpatients enrolled in the Integral Assessment in Unipolar Depression (AIUNI) trial. Participants were assessed by two raters on five visits over 8 weeks. We calculated multiple interrater reliability indexes for the SIGMA-VB and used the Hamilton Depression Hating Scale (HAM-D) for validation purposes. Results: According to the SIGMA-VB, participants had moderate depression at baseline followed by mild depression at 8 weeks. We found over 90% of correlation between scores attributed by different raters using the SIGMA-VB. Correlations between the SIGMA-VB and the HAM-D were above 66%. Conclusion: Our findings confirm that the SIGMA-VB is a valid and reliable instrument to assess depression severity in clinical research and practice. Its interrater reliability was similar to that of a previously published Japanese version of the SIGMA.

Residencia familiar, comprensión, campos de aplicación, aportes y desafíos / Family resilience: understanding, fields of application, contributions and challenges

Resumen Se realizó una revisión de literatura en la que se pretendió establecer el estado de la investigación y conceptualización del fenómeno de la resiliencia familiar y sus aportes entre los años 2010 y 2016. Se encontró que el estado de la investigación y conceptualización, si bien es aún incipiente, se observa una tendencia al aumento de trabajos de tipo empírico y teórico reflexivo, lo que implica una mayor relevancia frente a la investigación e intervención. Con respecto a las áreas de trabajo se observó la predominancia de: salud, neurociencias aplicadas y rehabilitación, social, comunitaria y de las organizaciones, seguidas por psicología clínica y prevención, psicología militar y en último lugar la educación, en su orden. Se concluyó que resulta imperante la continuidad en el desarrollo de estudios al respecto del tema y ampliar áreas de estudio como la psicología ambiental, política, de tránsito, de las organizaciones y el trabajo.

Abstract We conducted a literature review to establish the state of the art and conceptualization of family resilience between 2010 and 2016. Even if still incipient, there is an increase in both empirical and theoretical-reflective research, which involves a higher relevance in terms of research and intervention. Predominant research areas were: health, applied neuroscience and rehabilitation, social, community and organizational; followed by clinical psychology and prevention, military psychology, and education. Further research is definitely needed to continue expanding the literature and including areas such as environmental psychology, politics, mobility, organizations and work is also important.

Pleomorphic Adenoma in a Young Female: Case Report / Adenoma Pleomórfico en una Mujer Joven: Reporte de Caso

ABSTRACT: Pleomorphic adenoma (PA) is the most common benign salivary gland neoplasm and it is frequently diagnosed in the third and fourth decade with predilection for women. PA is the most common benign lesion of minor salivary glands in children and adolescents, being the palate one of the most frequently affected site of minor salivary glands. Herein, we present a case report of a PA of the hard palate diagnosed in a 15-year-old female and a review of the Englishliterature of the reported cases of PA in children and adolescents in the hard palate.

RESUMEN: El adenoma pleomórfico (AP) es la neoplasia benigna más común de las glándulas salivales y se diagnostica frecuentemente en la tercera y cuarta década con predilección por las mujeres. El AP es la lesión benigna más común de las glándulas salivales menores en niños y adolescentes, siendo el paladar uno de los sitios más frecuentemente afectados de las glándulas salivales menores. En este trabajo se presenta un relato de caso de un AP de paladar duro diagnosticado en una mujer de 15 años de edad y una revisión de la literatura en inglés de los casos reportados de AP en niños y adolescentes en paladar duro.

Predicting response to treatment and discriminating bipolar and depression symptoms using Hamilton Depression Rating Scale / Preditor de resposta ao tratamento e discriminação de pacientes com depressão maior e transtorno bipolar pela Escala Hamilton de Depressão

ABSTRACT Objective The present study aims to compare the diagnostic ability of the HAMD 17 items with shorter versions of 7 and 6 items. Methods A total of 133 patients from a 6 month clinical trial diagnosed with mood disorders (60.2% with Major Depressive Disorder and 39.8% with bipolar type I disorder) were recruited. Results The 17 items HAMD scale showed similar results as compared with shorter versions. Furthermore, almost all patients' diagnosed with Major Depressive Disorder scored more compared to Bipolar Disorder, but the difference was not significant. Conclusion This study allows that the use of a shorter version of HAMD might be an adequate possibility, and also that depressive symptoms were similar among groups.

RESUMO Objetivo O presente estudo tem por objetivo investigar a habilidade diagnóstica da HAMD 17 comparada a versões breves de 7 e 6 itens. Métodos Foram selecionados 133 participantes recrutados de um ensaio clínico (60,2% com Depressão Maior e 39,8% com Transtorno Bipolar tipo I). Resultados A versão de 17 itens da HAMD mostrou resultados similares quando comparada às versões breves. Ademais, quase todos os pacientes diagnosticados com Depressão Maior apresentaram maiores pontuações, contudo, essa diferença não foi estatisticamente significativa. Conclusão Este estudo demonstra que o uso de uma versão breve da HAMD pode ser uma possibilidade adequada e que os sintomas depressivos se mostraram similares entre os grupos de bipolares e depressivos.

Epistasis between COMT Val158Met and DRD3 Ser9Gly polymorphisms and cognitive function in schizophrenia: genetic influence on dopamine transmission

Objective:To assess the relationship between cognitive function, a proposed schizophrenia endophenotype, and two genetic polymorphisms related to dopamine function, catechol-O-methyl transferase (COMT) Val158Met and dopamine receptor 3 (DRD3) Ser9Gly.Methods:Fifty-eight outpatients with schizophrenia/schizoaffective disorder and 88 healthy controls underwent neurocognitive testing and genotyping. Analyses of covariance (ANCOVAs) using age, sex, and years of education as covariates compared cognitive performance for the proposed genotypes in patients and controls. ANCOVAs also tested for the epistatic effect of COMT and DRD3 genotype combinations on cognitive performance.Results:For executive functioning, COMT Val/Val patients performed in a similar range as controls (30.70-33.26 vs. 35.53-35.67), but as COMT Met allele frequency increased, executive functioning worsened. COMT Met/Met patients carrying the DRD3 Ser/Ser genotype performed poorest (16.184 vs. 27.388-31.824). Scores of carriers of this COMT/DRD3 combination significantly differed from all DRD3 Gly/Gly combinations (p < 0.05), from COMT Val/Met DRD3 Ser/Gly (p = 0.02), and from COMT Val/Val DRD3 Ser/Ser (p = 0.01) in patients. It also differed significantly from all control scores (p < 0.001).Conclusion:Combined genetic polymorphisms related to dopamine neurotransmission might influence executive function in schizophrenia. Looking at the effects of multiple genes on a single disease trait (epistasis) provides a comprehensive and more reliable way to determine genetic effects on endophenotypes.

In vitro fertilization (IVF) in mammals: epigenetic and developmental alterations: scientific and bioethical implications for IVF in humans

The advent of in vitro fertilization (IVF) in animals and humans implies an extraordinary change in the environment where the beginning of a new organism takes place. In mammals fertilization occurs in the maternal oviduct, where there are unique conditions for guaranteeing the encounter of the gametes and the first stages of development of the embryo and thus its future. During this period a major epigenetic reprogramming takes place that is crucial for the normal fate of the embryo. This epigenetic reprogramming is very vulnerable to changes in environmental conditions such as the ones implied in IVF, including in vitro culture, nutrition, light, temperature, oxygen tension, embryo-maternal signaling, and the general absence of protection against foreign elements that could affect the stability of this process. The objective of this review is to update the impact of the various conditions inherent in the use of IVF on the epigenetic profile and outcomes of mammalian embryos, including superovulation, IVF technique, embryo culture and manipulation and absence of embryo-maternal signaling. It also covers the possible transgenerational inheritance of the epigenetic alterations associated with assisted reproductive technologies (ART), including its phenotypic consequences as is in the case of the large offspring syndrome (LOS). Finally, the important scientific and bioethical implications of the results found in animals are discussed in terms of the ART in humans.

Influence of personality traits in coping skills in individuals with bipolar disorder / A influência dos traços de personalidade nas habilidades de coping de indivíduos com transtorno de humor bipolar

Background: Bipolar disorder is marked by alterations in coping skills which in turn impacts the disease course. Personality traits are associated with coping skills and for this reason it has been suggested that personality traits of patients with BD may have influence over their coping skills. Objective: To investigate possible associations between coping skills and personality in individuals with bipolar disorder (BD). Methods: Thirty-five euthymic subjects with BD were compared with 40 healthy controls. Coping skills were evaluated using Ways of Coping Checklist Revised and Brief-COPE. Personality traits were assessed by Neo Personality Inventory. MANCOVA was used for between groups comparison. Results: Regarding coping, individuals with BD reported more frequent use of emotion-focused strategies than problem-focused strategies, and high levels of neuroticism and low levels of extroversion and conscientiousness on personality measures. Neuroticism influenced negatively the use of problem-focused strategies, and positively emotion-focused coping. Conscientiousness influenced the use of problem-focused strategies in both groups. There was a significant difference between emotion focused coping and personality traits between BD and control groups. Discussion: Personality traits seem to modulate coping skills and strategies in BD which may be took into account for further interventions...

Contexto: O transtorno de humor bipolar (THB) é marcado por estratégias de enfrentamento, ou coping, que determinam comportamentos que podem influenciar negativamente o curso da doença. Traços de personalidade são altamente associados com estratégias de coping, portanto se faz a hipótese de que traços de personalidade influenciem as estratégias de coping de portadores de THB. Objetivo: Este estudo buscou investigar associações entre traços de personalidade e estratégias de coping em pacientes com THB. Métodos: Trinta e cinco participantes eutímicos diagnosticados com THB e 40 controles saudáveis participaram deste estudo. Estratégias de coping foram avaliadas com a Ways of Coping Checklist Revised and Brief – COPE – e traços de personalidade foram avaliados com o Neo Personality Inventory. Resultados: Participantes com THB possuíram padrão de estratégias de coping significativamente mais baseados na emoção. Em termos de traços de personalidade, participantes com THB tiveram significativamente mais características de neuroticismo e reduzidas características de extroversão e consciência. Foram encontradas associações positivas entre índices de neuroticismo e estratégias de coping baseadas em emoções e associações negativas com estratégias baseadas no problema. Conclusão: Traços de personalidade são fundamentais para as estratégias de coping de pacientes com THB, portanto traços de personalidade devem ser considerados alvos terapêuticos para a psicopatologia...

Ansiedade e coração / Anxiety and heart

A ansiedade patológica e suas repercussões fisiológicas não afligem apenas o bem-estar psíquico e a funcionalidade. A saúde geral também fica comprometida, com aumento da incidência de comorbidades clínicas. Entre estas, as mais significativamente associadas com ansiedade são as doenças da tireoide, doença do refluxo gastroesofágico, psoríase e, sobretudo, as doenças cardíacas. Estas são as mais importantes do ponto de vista de morbidade e mortalidade. Ansiedade e doença cardíaca não são meras comorbidades, mas exercem uma complexa interação, que discutiremos neste texto...

The pathological anxiety and the physiological rebounds don't attack well-being and the functionality only. General health is committed as well, whith medical comorbidity increase. Among these, the more associated significantly with anxiety are thyroid disease, gastroesophageal reflux disease, psoriasis, and mainly heart diseases. These are the mostly important point of view about morbidity and mortality. Anxiety and heart disease are not just comorbidity, but they act with a complex interaction which will be discussing in this paper...

Falta de sentido de vida y suicidio: ¿en qué circunstancias el paternalismo médico puede estar justificado? / Falta de sentido de vida e suicídio: em que circunstâncias o paternalismo médico pode estar justificado? / Lack of sense of life and suicide: In which circumstances medical paternalism may be justified?

Objetivos. Descripción de un caso clínico abordado a través de un enfoque bioético. Materiales y métodos. Por medio de la deliberación moral, se aclararon los hechos relevantes y se identificaron los problemas morales; se seleccionó el problema ético central y se plantearon cursos de acción. Resultados y conclusiones. En este caso clínico la solución más prudente incluyó el paternalismo justificado. La práctica de la deliberación moral es indispensable, porque las decisiones frecuentemente rebasan la técnica médica y exigen la ponderación de valores morales.

Aims: Description of a clinical case addressed by using a bioethical focus. Materials and methods: Relevant facts were clarified and moral problems were identified by moral deliberation; main ethical problem was selected and courses of action were suggested. Results and conclusions: In this clinical case the most prudent solution was justified paternalism. The practice of moral deliberation is essential since decisions frequently surpass medical techniques and demand the deliberation of moral values.

Objetivos. Descrição de um caso clínico abordado através de um enfoque bioético. Materiais e métodos. Por meio da deliberação moral foram esclarecidos os fatos relevantes e se identificaram os problemas morais; se selecionou o problema ético central e se apresentou cursos de ação. Resultados e conclusões. Neste caso clínico a solução mais prudente incluiu o paternalismo justificado. A prática da deliberação moral é indispensável porque as decisões frequentemente ultrapassam a técnica médica e exigem a ponderação de valores morais.

Association study between COMT 158Met and creativity scores in bipolar disorder and healthy controls / Estudo de associação entre COMT 158Met e criatividade em sujeitos com transtorno bipolar e controles saudáveis

Background: Bipolar disorder (BD) patients have been reported to be associated higher creativity abilities, and recent data tend to support the hypothesis that dopaminergic system that could be associated with creativity. Catechol-O-methyltransferase (COMT) is one of the major enzymes involved in the metabolic degradation of dopamine. The COMT gene polymorphism (rs4680 or Val158Met) Met allele is reported to cause decreased activity of this enzyme in prefrontal cortex and improve performance in several cognitive domains. Objective: The objective of this study was to evaluate the influence of Val158Met on creativity in BD type I and healthy controls. Methods: Ninety-seven healthy volunteers and 120 BD type I were genotyped for COMT rs4680 and tested for creativity (Barrow Welsh Art Scale – BWAS) and intelligence Wechsler Abbreviated Scale of Intelligence (WASI). Results: COMT Met allele positively influenced creativity scores in healthy controls but not in BD subjects during mood episodes and euthymia. The presence of allele Met did not influence IQ scores. No influence of IQ total score on creativity was observed. Limitations control group presented higher IQ scores and euthymic group was under medication use. Discussion: Our research suggests positive effect of COMT rs4680 (allele Met) on creativity scores in healthy controls. One possible interpretation is that creativity is more likely to be associated with lesser degrees of bipolarity. The fact that the same results were not observed in BD may be associated to dysfunctions in the dopaminergic system that characterizes this disorder. Further studies with larger samples and other types of BD should explore the role of the dopaminergic system in creativity...

Contexto: O transtorno bipolar (TB) geralmente é associado a pessoas com maiores habilidades criativas, e dados recentes apontam que o sistema dopaminérgico pode estar relacionado à criatividade. A enzima catecol-O-metiltransferase (COMT) é um dos principais agentes envolvidos na degradação metabólica da dopamina. O gene da COMT apresenta um polimorfismo (rs4680 ou Val158Met) no qual o alelo Met se associa a uma diminuição da atividade enzimática da COMT, levando a um melhor desempenho em testes cognitivos. Objetivo O objetivo deste estudo foi avaliar a influência do polimorfismo funcional Val158Met na criatividade de pacientes com TB e em controles. Métodos Noventa e sete voluntários saudáveis e 120 pacientes com TB tipo I foram genotipados para COMT rs4680 e testados para criatividade (Barrow Welsh Art Scale – BWAS) e inteligência (Wechsler Abbreviated Scale of Intelligence – WASI). Resultados: O alelo Met da COMT associou-se a maiores pontuações na escala de criatividade na amostra de controles saudáveis, mas o mesmo não foi observado em pacientes com TB. A presença do alelo Met não influenciou a pontuação de QI em nenhum dos grupos. O grupo controle apresentava QI médio maior que o grupo TB; o grupo TB estava em uso de múltiplas medicações no momento das avaliações. Conclusão: Nossos resultados sugerem influência positiva do alelo Met do COMT rs4680 na criatividade de controles saudáveis. Isso sugere que a criatividade seja uma função possivelmente associada a menores graus de bipolaridade do que nos pacientes com TB tipo I. O fato de não termos observado influência do alelo Met nos resultados dos pacientes com TB pode ser justificado pelo fato de que justamente alterações nesse sistema sejam uma das características básicas do TB. É necessário maior número de estudos commaiores tamanhos amostrais para explorar mais detalhadamente o papel do sistema dopaminérgico na criatividade...

Differential expression and localization of ADAM10 and ADAM17 during rat spermatogenesis suggest a role in germ cell differentiation

BACKGROUND: Extracellular metolloproteases have been implied in different process such as cell death, differentiation and migration. Membrane-bound metalloproteases of the ADAM family shed the extracellular domain of many cytokines and receptor controlling auto and para/juxtacrine cell signaling in different tissues. ADAM17 and ADAM10 are two members of this family surface metalloproteases involved in germ cell apoptosis during the first wave of spermatogenesis in the rat, but they have other signaling functions in somatic tissues. RESULTS: In an attempt to further study these two enzymes, we describe the presence and localization in adult male rats. Results showed that both enzymes are detected in germ and Sertoli cells during all the stages of spermatogenesis. Interestingly their protein levels and cell surface localization in adult rats were stage-specific, suggesting activation of these enzymes at particular events of rat spermatogenesis. CONCLUSIONS: Therefore, these results show that ADAM10 and ADAM17 protein levels and subcellular (cell surface) localization are regulated during rat spermatogenesis.