Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Subjects and methods: Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete CYP21A2 molecular analysis due to suspicion of NC-CAH. We divided included participants into three groups according to the CYP21A2 molecular analysis: NC-CAH females (46), heterozygous carriers (49), and wild type (36). We then compared clinical signs and symptoms as well as biochemical and molecular data between carriers and NC-CAH individuals and between carriers and wild type females. We measured 17OHP by electrochemiluminescence immunoassay. Results: Clinical features were similar between groups. Heterozygous carriers presented higher basal and post-cosyntropin 17-hydroxyprogesterone (17OHP) than wild type individuals (p < 0.05) and lower basal and stimulated 17OHP levels than NC-CAH patients (p < 0.05). We discovered a considerable overlap between 17OHP levels among groups. The most common pathogenic variant we identified was p.Val282Leu. Conclusion: In this population of hyperandrogenic women and children, heterozygous carriers showed higher basal and stimulated 17OHP than non-carriers although normal basal and stimulated 17OHP responses do not exclude heterozygosity for CYP21A2 pathogenic variants. In this study, only the molecular analysis presented good sensitivity in identifying heterozygotes.

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.

Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Methods: Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete CYP21A2 molecular analysis due to suspicion of NC-CAH. We divided included participants into three groups according to the CYP21A2 molecular analysis: NC-CAH females (46), heterozygous carriers (49), and wild type (36). We then compared clinical signs and symptoms as well as biochemical and molecular data between carriers and NC-CAH individuals and between carriers and wild type females. We measured 17OHP by electrochemiluminescence immunoassay. Results: Clinical features were similar between groups. Heterozygous carriers presented higher basal and post-cosyntropin 17-hydroxyprogesterone (17OHP) than wild type individuals (p < 0.05) and lower basal and stimulated 17OHP levels than NC-CAH patients (p < 0.05). We discovered a considerable overlap between 17OHP levels among groups. The most common pathogenic variant we identified was p.Val282Leu. Conclusion: In this population of hyperandrogenic women and children, heterozygous carriers showed higher basal and stimulated 17OHP than non-carriers although normal basal and stimulated 17OHP responses do not exclude heterozygosity for CYP21A2 pathogenic variants. In this study, only the molecular analysis presented good sensitivity in identifying heterozygotes.

Forgiveness facilitation in palliative care: a scoping review.

OBJECTIVE: The objective of this review is to map the nature and extent of forgiveness facilitation intervention implemented and evaluated in palliative care contexts. INTRODUCTION: Spiritual beliefs often include reconciliation and forgiveness, which are critical to patients and families in palliative care. Forgiveness facilitation can represent a valuable response as a multidisciplinary and non-pharmacological intervention to reduce suffering. INCLUSION CRITERIA: Studies including palliative care patients aged 18 years or over and assisted by palliative care teams, including all healthcare professionals, chaplains, and volunteers, were included in this review. METHODS: This scoping review is based on JBI methodology. The search was conducted in June 2017 and updated in December 2018 using international databases and gray literature in English, Spanish, German, Italian, and Portuguese. RESULTS: A total of 23 articles were included in this review. The results suggest a growing interest in forgiveness facilitation in palliative care in different spiritual and religious traditions. Most studies are based on a psychological perspective. Several activities related to the intervention have been identified, but few details or characteristics are described. Social workers, nurses, doctors, and psychologists were most identified as healthcare staff involved in forgiveness facilitation. The outcomes related to the intervention are mental, physical, and relational well-being; quality of life, decision-making and communication; self-esteem and hope; depression, anger, and anxiety; and inner peace. CONCLUSIONS: Forgiveness facilitation is critical in palliative care and is grounded in a multidisciplinary approach, but further evidence is needed to inform clinical implementation. These results open new perspectives for research and training on palliative healthcare staff.

Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.

Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by pathogenic variants of the nuclear factor kappa-B subunit 2 (NF-κB2) gene. We report the case of a 9-yr-old boy diagnosed with common variable immunodeficiency at the age of 3, who is under monthly intravenous immunoglobulin. The patient was admitted twice to the pediatric emergency service at the age of 9 due to symptomatic hypoglycemic events. During the hypoglycemic crisis, serum cortisol was low (< 0.1 µg/dL), ACTH level was inappropriately low (4.4 ng/L) and the ACTH stimulation test failed to raise the blood cortisol level. Pituitary magnetic resonance imaging showed a hypoplastic pituitary. Other pituitary deficiencies, primary hyperinsulinism and other metabolic diseases were excluded. He started hydrocortisone replacement treatment while maintaining immunoglobulin substitution and he remains asymptomatic. Molecular analysis revealed the heterozygous nonsense pathogenic variant, c.2557C>T (Arg853Ter) in the NF-κB2 gene. Thus, symptomatic hypoglycemia in a child with primary immunodeficiency should raise the suspicion of DAVID syndrome, prompting NF-κB2 molecular analysis, to allow timely and appropriated therapy and genetic counseling.

46,XX male disorder of sexual development.

An individual's sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the SRY gene locus found on one of his X chromosomes. A multidisciplinary approach, including psychological support and genetic counseling, is ideal for the management of these patients. Neoplastic transformation of the dysgenetic gonads has been described in several cases, and hence self-examinations and regular ultrasounds are commonly advised.

Forgiveness facilitation in palliative care: a scoping review protocol.

REVIEW QUESTION/OBJECTIVE: The objective of this scoping review is to map the nature and extent of forgiveness facilitation interventions that have been implemented and evaluated in palliative care contexts. More specifically, the review questions are.

Ensino superior e desenvolvimento de competências transversais em futuros economistas e gestores / Higher education and soft skills' development for future managers and economists / La educación superior y el desarrollo de habilidades transferibles a futuros directivos y economistas

O Ensino Superior têm enfrentado enormes desafios no sentido de criar e/ou otimizar contextos de aprendizagem que permitam aos estudantes lidar de forma mais orientada com as exigências do mercado de trabalho. A relação entre conhecimento científico e técnico e competências transversais assume um papel determinante no desempenho profissional de excelência. Para responder a estas exigências, a Faculdade de Economia e Gestão da Católica Porto desenvolveu uma abordagem reconhecida em 2010 pela OCDE como prática de inovação curricular e desenvolvimento de competências. O Strategic Leadership Hub desenvolve intervenção em três níveis: 1. coaching e mentoring com os estudantes; 2. cooperação com os professores; e 3. articulação como mercado de trabalho. Neste artigo serão apresentados alguns resultados da adesão e satisfação dos estudantes com os processos de intervenção, das principais competências desenvolvidas e de empregabilidade.(AU)

Higher education has been facing great challenges in order to build and / or optimize learning environments that enable students to better suit labor market expectations. The relationship between scientific and technical knowledge and soft skills has a determinant role in a professional performance of excellence. To attend these requirements, the School of Economics and Management at Catholic University of Portugal has developed an approach distinguished by the OECD in 2010 as a best practice of curriculum innovation and skills' development. The Strategic Leadership Hub develops intervention at three levels: 1. coaching and mentoring with students, 2. cooperation with teachers, and 3. approach to the labor market. This article presents some results regarding students' attendance and satisfaction with the intervention processes, soft skills' development and employability rates.(AU)

La educación superior se ha enfrentado a enormes desafíos para la construcción y/o la optimización de ambientes de aprendizaje que permitan a los estudiantes tratar de manera más orientada las necesidades del mercado de trabajo. La relación entre el conocimiento científico y el técnico, y habilidades sociales tiene un papel importante en el desempeño como profesionales de excelencia. Para cumplir estos requisitos, la Facultad de Economía y Gestión de la Universidad Católica Portuguesa desarrolló un enfoque reconocido por la OCDE en 2010 como una práctica de innovación curricular y desarrollo de habilidades. El Strategic Leadership Hub desarrolla la intervención en tres niveles: 1. la orientación y tutoría a los estudiantes, 2. la cooperación con los maestros, y 3. la aproximación al mercado de trabajo. Este artículo presenta algunos resultados sobre la inscripción y la evaluación de los procesos por los estudiantes, las principales habilidades desarrolladas y la empleabilidad.(AU)

Ensino superior e desenvolvimento de competências transversais em futuros economistas e gestores / Higher education and soft skills' development for future managers and economists / La educación superior y el desarrollo de habilidades transferibles a futuros directivos y economistas

O Ensino Superior têm enfrentado enormes desafios no sentido de criar e/ou otimizar contextos de aprendizagem que permitam aos estudantes lidar de forma mais orientada com as exigências do mercado de trabalho. A relação entre conhecimento científico e técnico e competências transversais assume um papel determinante no desempenho profissional de excelência. Para responder a estas exigências, a Faculdade de Economia e Gestão da Católica Porto desenvolveu uma abordagem reconhecida em 2010 pela OCDE como prática de inovação curricular e desenvolvimento de competências. O Strategic Leadership Hub desenvolve intervenção em três níveis: 1. coaching e mentoring com os estudantes; 2. cooperação com os professores; e 3. articulação como mercado de trabalho. Neste artigo serão apresentados alguns resultados da adesão e satisfação dos estudantes com os processos de intervenção, das principais competências desenvolvidas e de empregabilidade.

Higher education has been facing great challenges in order to build and / or optimize learning environments that enable students to better suit labor market expectations. The relationship between scientific and technical knowledge and soft skills has a determinant role in a professional performance of excellence. To attend these requirements, the School of Economics and Management at Catholic University of Portugal has developed an approach distinguished by the OECD in 2010 as a best practice of curriculum innovation and skills' development. The Strategic Leadership Hub develops intervention at three levels: 1. coaching and mentoring with students, 2. cooperation with teachers, and 3. approach to the labor market. This article presents some results regarding students' attendance and satisfaction with the intervention processes, soft skills' development and employability rates.

La educación superior se ha enfrentado a enormes desafíos para la construcción y/o la optimización de ambientes de aprendizaje que permitan a los estudiantes tratar de manera más orientada las necesidades del mercado de trabajo. La relación entre el conocimiento científico y el técnico, y habilidades sociales tiene un papel importante en el desempeño como profesionales de excelencia. Para cumplir estos requisitos, la Facultad de Economía y Gestión de la Universidad Católica Portuguesa desarrolló un enfoque reconocido por la OCDE en 2010 como una práctica de innovación curricular y desarrollo de habilidades. El Strategic Leadership Hub desarrolla la intervención en tres niveles: 1. la orientación y tutoría a los estudiantes, 2. la cooperación con los maestros, y 3. la aproximación al mercado de trabajo. Este artículo presenta algunos resultados sobre la inscripción y la evaluación de los procesos por los estudiantes, las principales habilidades desarrolladas y la empleabilidad.

Estudantes maiores de 23 anos em Psicologia: Motivações e processo de integração / Over 23-year-old students in Psychology: Motivations and integration process / Estudiantes de Psicología mayores de 23 años: Motivaciones y proceso de integración

A presente investigação tem como objetivo a análise e compreensão do processo de ingresso e integração de maiores de 23 anos no Ensino Superior português, pretendendo-se destacar fatores/dimensões determinantes na base destes processos. Foram realizadas 18 entrevistas a estudantes dos 1.º e 2.º anos do Mestrado Integrado em Psicologia da Faculdade de Psicologia e de Ciências da Educação da Universidade do Porto (Maiores de 23 anos, n = 9; Acesso Regular, n = 9). Os resultados apontam para a existência de uma constelação de fatores motivacionais na origem do desejo de ingresso, a par de uma perceção positiva acerca da integração e uma atitude proactiva na sinalização de práticas a serem reformuladas e implementadas pela instituição, com vista ao sucesso global dos seus estudantes.(AU)

This research aimed at analyzing and understanding the admission process to higher education, with over 23-year-old students, seeking to highlight determinant factors/dimensions underpinning those processes. Eighteen interviews were performed with students from the 1st and 2nd grades of the Master in Psychology Degree of the Faculty of Psychology and Educational Sciences, University of Porto (over 23 years; n = 9; regular access; n = 9). The results indicated the existence of a constellation of motivational factors originating their wish to attend higher education, besides a positive perception about their integration process, as well as a proactive attitude in the identification of practices to be reformulated and implemented by the institution, in order to provide their students means to achieve both personal and career success.(AU)

La presente investigación tiene como objetivo el análisis y la comprensión del proceso de ingreso e integración de mayores de 23 años en la Enseñanza Superior portuguesa, pretendiendo destacar factores/dimensiones determinantes en la base de estos procesos. Se realizaron 18 entrevistas a estudiantes de 1.º y 2.º año de la Maestría Integrada en Psicología de la Facultad de Psicología y de Ciencias de la Educación de la Universidad de Porto (Mayores de 23 años, n = 9; Ingreso Regular, n = 9). Los resultados indican la existencia de una constelación de factores motivadores en el origen del deseo de ingreso, junto con una percepción positiva sobre la integración y una actitud proactiva en el señalamiento de prácticas a ser reformuladas e implementadas por la institución, buscando el éxito global de sus estudiantes.(AU)

Estudantes maiores de 23 anos em Psicologia: Motivações e processo de integração / Over 23-year-old students in Psychology: Motivations and integration process / Estudiantes de Psicología mayores de 23 años: Motivaciones y proceso de integración

A presente investigação tem como objetivo a análise e compreensão do processo de ingresso e integração de maiores de 23 anos no Ensino Superior português, pretendendo-se destacar fatores/dimensões determinantes na base destes processos. Foram realizadas 18 entrevistas a estudantes dos 1.º e 2.º anos do Mestrado Integrado em Psicologia da Faculdade de Psicologia e de Ciências da Educação da Universidade do Porto (Maiores de 23 anos, n = 9; Acesso Regular, n = 9). Os resultados apontam para a existência de uma constelação de fatores motivacionais na origem do desejo de ingresso, a par de uma perceção positiva acerca da integração e uma atitude proactiva na sinalização de práticas a serem reformuladas e implementadas pela instituição, com vista ao sucesso global dos seus estudantes.

This research aimed at analyzing and understanding the admission process to higher education, with over 23-year-old students, seeking to highlight determinant factors/dimensions underpinning those processes. Eighteen interviews were performed with students from the 1st and 2nd grades of the Master in Psychology Degree of the Faculty of Psychology and Educational Sciences, University of Porto (over 23 years; n = 9; regular access; n = 9). The results indicated the existence of a constellation of motivational factors originating their wish to attend higher education, besides a positive perception about their integration process, as well as a proactive attitude in the identification of practices to be reformulated and implemented by the institution, in order to provide their students means to achieve both personal and career success.

La presente investigación tiene como objetivo el análisis y la comprensión del proceso de ingreso e integración de mayores de 23 años en la Enseñanza Superior portuguesa, pretendiendo destacar factores/dimensiones determinantes en la base de estos procesos. Se realizaron 18 entrevistas a estudiantes de 1.º y 2.º año de la Maestría Integrada en Psicología de la Facultad de Psicología y de Ciencias de la Educación de la Universidad de Porto (Mayores de 23 años, n = 9; Ingreso Regular, n = 9). Los resultados indican la existencia de una constelación de factores motivadores en el origen del deseo de ingreso, junto con una percepción positiva sobre la integración y una actitud proactiva en el señalamiento de prácticas a ser reformuladas e implementadas por la institución, buscando el éxito global de sus estudiantes.

Os estudantes maiores de 23 anos no Ensino Superior português: Estudo crítico e revisão documental / The students oldest than 23 years in Portuguese Higher Education: Critical study and documentary review / Estudiantes mayores de 23 años en la Enseñanza Superior portuguesa: Una revisión crítica de la bibliografía

Num mundo cada vez mais exigente face às práticas educativas e à valorização curricular no mercado de trabalho, torna-se pertinente a reflexão acerca da necessidade crescente demonstrada pela população adulta em actualizar os seus conhecimentos e ver formalmente reconhecidas as competências adquiridas ao longo da sua vida. A presente exposição escrita assenta num trabalho de revisão crítica da literatura com o objectivo geral de explorar o tema do acesso dos adultos maiores de 23 anos (M23) ao Ensino Superior (ES) no contexto educativo português. Desta forma, pretende-se alcançar uma melhor compreensão do conceito de aprendizagem ao longo da vida e as teorias do desenvolvimento a ele associadas, explorando os modelos de formação/educação de adultos e as implicações deste recente regime de ingresso a nível europeu e nacional. Adoptou-se uma postura activa de questionamento relativamente às opiniões divergentes acerca do tema, assumindo um posicionamento crítico face a este regime especial de acesso.(AU)

In an ever more demanding world in which concerns educational practices and curriculum value in the labor market, it is important to reflect on the growing need demonstrated by the adult population to update their knowledge and be formally recognized for the skills acquired throughout their life. This written exhibition is based on a literature review study with the primary goal of exploring the issue of access of adults aged over 23 (M23) into Higher Education (ES) in the Portuguese educational context. Thus, we intend to achieve a better understanding of the concept of lifelong learning and development theories associated with it, exploring models of adults’ training / education and the implications of this latest regime of access at European and national level. Adopting an active questioning about differing opinions on the subject, we assume a critical attitude to this special access regime.(AU)

En un mundo cada vez más exigente ante las prácticas educativas y la valorización curricular en el mercado de trabajo se vuelve pertinente la reflexión acerca de la necesidad creciente demostrada por la población adulta de actualizar sus conocimientos y ver formalmente reconocidas las competencias adquiridas a lo largo de su vida. La presente exposición escrita se basa en un trabajo de revisión crítica de la bibliografía con el objeto general de explorar el tema del acceso de los adultos mayores de 23 años (M23) a la Enseñanza Superior (ES) en el contexto educativo portugués. Con esto se pretende alcanzar una mejor comprensión del concepto de aprendizaje a lo largo de la vida y las teorías del desarrollo a él asociadas, explorando los modelos de formación/educación de adultos, así como las implicancias de este reciente régimen de ingreso a escala europea y nacional. Se adoptó una postura activa de cuestionamiento con relación a las opiniones divergentes acerca del tema asumiendo una posición crítica ante este régimen especial de acceso.(AU)

Os estudantes maiores de 23 anos no Ensino Superior português: Estudo crítico e revisão documental / The students oldest than 23 years in Portuguese Higher Education: Critical study and documentary review / Estudiantes mayores de 23 años en la Enseñanza Superior portuguesa: Una revisión crítica de la bibliografía

Num mundo cada vez mais exigente face às práticas educativas e à valorização curricular no mercado de trabalho, torna-se pertinente a reflexão acerca da necessidade crescente demonstrada pela população adulta em actualizar os seus conhecimentos e ver formalmente reconhecidas as competências adquiridas ao longo da sua vida. A presente exposição escrita assenta num trabalho de revisão crítica da literatura com o objectivo geral de explorar o tema do acesso dos adultos maiores de 23 anos (M23) ao Ensino Superior (ES) no contexto educativo português. Desta forma, pretende-se alcançar uma melhor compreensão do conceito de aprendizagem ao longo da vida e as teorias do desenvolvimento a ele associadas, explorando os modelos de formação/educação de adultos e as implicações deste recente regime de ingresso a nível europeu e nacional. Adoptou-se uma postura activa de questionamento relativamente às opiniões divergentes acerca do tema, assumindo um posicionamento crítico face a este regime especial de acesso.

In an ever more demanding world in which concerns educational practices and curriculum value in the labor market, it is important to reflect on the growing need demonstrated by the adult population to update their knowledge and be formally recognized for the skills acquired throughout their life. This written exhibition is based on a literature review study with the primary goal of exploring the issue of access of adults aged over 23 (M23) into Higher Education (ES) in the Portuguese educational context. Thus, we intend to achieve a better understanding of the concept of lifelong learning and development theories associated with it, exploring models of adults’ training / education and the implications of this latest regime of access at European and national level. Adopting an active questioning about differing opinions on the subject, we assume a critical attitude to this special access regime.

En un mundo cada vez más exigente ante las prácticas educativas y la valorización curricular en el mercado de trabajo se vuelve pertinente la reflexión acerca de la necesidad creciente demostrada por la población adulta de actualizar sus conocimientos y ver formalmente reconocidas las competencias adquiridas a lo largo de su vida. La presente exposición escrita se basa en un trabajo de revisión crítica de la bibliografía con el objeto general de explorar el tema del acceso de los adultos mayores de 23 años (M23) a la Enseñanza Superior (ES) en el contexto educativo portugués. Con esto se pretende alcanzar una mejor comprensión del concepto de aprendizaje a lo largo de la vida y las teorías del desarrollo a él asociadas, explorando los modelos de formación/educación de adultos, así como las implicancias de este reciente régimen de ingreso a escala europea y nacional. Se adoptó una postura activa de cuestionamiento con relación a las opiniones divergentes acerca del tema asumiendo una posición crítica ante este régimen especial de acceso.