Information needs and health status in adolescents and young adults with differences of sex development or sex chromosome aneuploidies.

INTRODUCTION: When and how to provide condition-related information to adolescents and young adults (AYAs) with differences of sex development or sex chromosome aneuploidies (DSDs or SCAs) is largely based on anecdotal experience and lacks informed guidance. For AYAs with a DSD or SCA, having accurate information is critical for attaining optimal adjustment and well-being, participating in decision making related to treatment options, and transitioning successfully to adult health care, yet prior studies have focused exclusively on parental perspectives and not on the views of adolescents themselves. OBJECTIVE: The objective of this study was to describe unmet information needs in AYAs with a DSD or SCA and examine associations with perceived global health. METHODS: Participants were recruited from specialty clinics at Children's Hospital of Philadelphia (n = 20) and Children's Hospital Colorado (n = 60). AYAs ages 12-21 years with a DSD or SCA and a parent completed a survey assessing perceived information needs across 20 topics, importance of those topics, and global health using the PROMIS Pediatric Global Health questionnaire (PGH-7). RESULTS: AYAs had diagnoses of Klinefelter syndrome (41%), Turner syndrome (25%), and DSD (26%) and were 16.7 years (SD = 2.56) and 44% female. Parent participants were primarily mothers (81%). AYAs perceived that 48.09% of their information needs were unmet (SD = 25.18, range: 0-100). Parents perceived that 55.31% of AYAs' information needs were unmet (SD = 27.46 range: 5-100). AYAs and parents across conditions reported unmet needs related to information about transition to adult health care, financial support for medical care, and how the condition might affect the AYA's health in the future. While AYA-reported PGH-7 scores were not associated with percentage of AYA unmet information needs, parent-reported PGH-7 scores were (r = -.46, p < .001), such that lower parent-reported global health was associated with higher percentage of AYA unmet information needs. DISCUSSION/CONCLUSION: On average, parents and AYAs perceived that half of AYAs' information needs were unmet, and a higher percentage of AYA unmet information needs was associated with lower perceived global health. The frequency of unmet needs in this sample of AYAs reflects an opportunity for improvement in clinical care. Future research is needed to understand how education to children and AYAs unfolds as they mature and to develop strategies to address the information needs of AYAs with a DSD or SCA, promote well-being, and facilitate AYA engagement in their own health care.

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.

Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new genes implicated in sexual development, such as PBX1. We present here a fetus with a new PBX1 NM_002585.3: c.320G>A,p.(Arg107Gln) variant, presenting with severe DSD along with renal and lung malformations. Using CRISPR-Cas9 gene editing on HEK293T cells, we generated a KD cell line for PBX1. The KD cell line showed reduced proliferation and adhesion properties compared with HEK293T cells. HEK293T and KD cells were then transfected plasmids coding either PBX1 WT or PBX1-320G>A (mutant). WT or mutant PBX1 overexpression rescued cell proliferation in both cell lines. RNA-seq analyses showed less than 30 differentially expressed genes, in ectopic mutant-PBX1-expressing cells compared with WT-PBX1. Among them, U2AF1, encoding a splicing factor subunit, is an interesting candidate. Overall, mutant PBX1 seems to have modest effects compared with WT PBX1 in our model. However, the recurrence of PBX1 Arg107 substitution in patients with closely related phenotypes calls for its impact in human diseases. Further functional studies are needed to explore its effects on cellular metabolism.

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

BACKGROUND: As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of recently identified genes allows an accurate diagnosis for previously idiopathic cases of female infertility and more appropriate patient care. However, robust evidence of the gene-disease relationships (GDR) allowing the proper translation to clinical application is still missing in many cases. OBJECTIVE AND RATIONALE: An evidence-based curation of currently identified genes involved in female infertility and differences in sex development (DSD) would significantly improve both diagnostic performance and genetic research. We therefore performed a systematic review to summarize current knowledge and assess the available GDR. SEARCH METHODS: PRISMA guidelines were applied to curate all available information from PubMed and Web of Science on genetics of human female infertility and DSD leading to infertility, from 1 January 1988 to 1 November 2021. The reviewed pathologies include non-syndromic as well as syndromic female infertility, and endocrine and reproductive system disorders. The evidence that an identified phenotype is caused by pathogenic variants in a specific gene was assessed according to a standardized scoring system. A final score (no evidence, limited, moderate, strong, or definitive) was assigned to every GDR. OUTCOMES: A total of 45 271 publications were identified and screened for inclusion of which 1078 were selected for gene and variant extraction. We have identified 395 genes and validated 466 GDRs covering all reported monogenic causes of female infertility and DSD. Furthermore, we present a genetic diagnostic flowchart including 105 genes with at least moderate evidence for female infertility and suggest recommendations for future research. The study did not take into account associated genetic risk factor(s) or oligogenic/polygenic causes of female infertility. WIDER IMPLICATIONS: We have comprehensively reviewed the existing research on the genetics of female infertility and DSD, which will enable the development of diagnostic panels using validated genes. Whole genome analysis is shifting from predominantly research to clinical application, increasing its diagnostic potential. These new diagnostic possibilities will not only decrease the number of idiopathic cases but will also render genetic counselling more effective for infertile patients and their families.

Uma teoria psicológica transfeminista: sobrevivendo aos escombros da saúde mental brasileira / A transfeminist psychological theory: surviving the debris of brazilian mental health / Una teoría psicológica transfeminista: sobrevivir a los escombros de la salud mental brasileña

Este artigo reflete sobre os modos como a cisnormatividade, conceito impulsionado pelos transfeminismos, tem auxiliado na composição da psicologia de maneira histórica. Ao elaborar uma crítica sobre como a violência de gênero está expressivamente presente no território brasileiro, discute-se como tem sido pensada a saúde mental, esfera que, uma vez inserida nesse contexto mais amplo, está sendo convocada a produzir saídas criativas em relação aos sujeitos que são alvo de discriminações transfóbicas. Na busca de deslocar o olhar do indivíduo para o social, foi realizado um estudo bibliográfico para investigar os diferentes impactos que a cisnormatividade opera em nossos currículos psicológicos, gerando efeitos na prática e na própria profissão. A aposta está em reconhecer outras epistemologias como projetos éticos e políticos a uma psicologia contemporânea, e a contribuição transfeminista a "outra" clínica. É nesse sentido que este trabalho se destina a pensar um modo de cuidado que esteja baseado na singularidade, mas que, ao mesmo tempo, seja capaz de dedicar alguma atenção ao paradigma normativo que nos guia como terapeutas.(AU)

This article reflects on the ways that cisnormativity, a concept boosted by transfeminisms, has played a historical role in the composition of psychology. Elaborating a criticism on how gender violence is expressively present in the Brazilian territory, we discuss how mental health is conceived, a sphere that, inserted in this wider context, is invited to create creative solutions related to the subjects who are the target of transphobic discrimination. Trying to shift the focus from the individual to the collective, a bibliographical study was conducted to recognize the different impacts that cisnormativity has in our psychological curriculums, having effects on the practice and on the profession itself. The goal is to recognize other epistemologies as ethical and political projects for contemporary psychology and the transfeminist contribution to "another" clinic. It is in this sense that this work aims to think about a form of care that is based on singularity, but that can also pay attention to the normative paradigm that guides us as therapists.(AU)

Este artículo reflexiona sobre las formas en que la cisnormatividad, un concepto impulsado por los transfeminismos, ha tenido un papel en la composición de la psicología de manera histórica. Al elaborar una crítica sobre como la violencia de género está expresamente presente en el territorio brasileño, se discute cómo se ha pensado la salud mental, dominio que, una vez insertado en este contexto más amplio, es convocado a producir soluciones creativas con relación a los sujetos que son objeto de discriminación transfóbica. Al desviar el enfoque del individuo hacia lo social, se realizó un estudio bibliográfico para investigar los diferentes impactos que tiene la cisnormatividad en nuestros planes de estudios psicológicos, generando efectos en la práctica y en la propia profesión. El foco está en reconocer otras epistemologías como proyectos éticos y políticos para la psicología contemporánea y la contribución transfeminista a una "otra" clínica. En este sentido, este trabajo pretende pensar en una forma de cuidado que se basa en la singularidad, al mismo tiempo que sea capaz de dedicar cierta atención al paradigma normativo que a nosotras nos guía como terapeutas.(AU)

Resolução de conflitos familiares por adolescentes e defesa do domínio pessoal / Adolescents' family conflict resolution and defense of personal domain / Resolución de conflictos familiares por adolescentes y defensa del dominio personal

Compreender as estratégias de resolução de conflitos utilizadas por adolescentes na relação com seus pais é fundamental para entender como ocorre seu desenvolvimento saudável. Este artigo investigou a resolução de conflitos de adolescentes em situações de confronto entre o seu domínio pessoal e o controle parental. 36 adolescentes com idades entre 15 e 17 anos, divididos igualmente conforme o sexo, responderam a uma entrevista semiestruturada, que continha quatro situações de conflito hipotéticas. Os dados foram submetidos à análise de conteúdo semântica e a testes não paramétricos. Os resultados foram categorizados em sete estratégias: Assunção de culpa, Submissão, Mentira, Hostilidade, Diálogo/Explicação, Negociação e Outra. A forma predominante de resolução utilizada foi o Diálogo/Explicação, considerada como uma forma recorrente de defender o domínio pessoal. Foram encontradas diferenças em relação ao sexo dos participantes e à situação hipotética. Por fim, os resultados são discutidos em termos de grau de autonomia e tipo de defesa do domínio pessoal.(AU)

Understanding the conflict resolution strategies used by adolescents in their relationship with their parents is fundamental to understanding how their healthy development occurs. This article investigated the resolution of conflicts by adolescents in confrontation situations between their personal domain and parental control. A total of 36 adolescents, aged 15 to 17 years, divided equally according to sex, answered a semi-structured interview that contained four hypothetical conflict situations. Data were subjected to semantic content analysis and non-parametric tests. The results were categorized into seven strategies: Assumption of Guilt, Submission, Lie, Hostility, Dialogue/Explanation, Negotiation, and Other. The predominant form of resolution used was Dialogue/Explanation, considered a recurrent form of defense of the personal domain. Differences were found depending on the participants' gender and the hypothetical situation. Finally, the results are discussed regarding the degree of autonomy and type of defense of the personal domain.(AU)

Enterarse de las estrategias de resolución de conflictos que los adolescentes utilizan en la relación con sus padres es fundamental para comprender cómo ocurre el desarrollo saludable de los adolescentes. A partir de una entrevista semiestructurada, presentamos cuatro situaciones hipotéticas de conflicto que fueron analizadas y respondidas por 36 adolescentes de entre 15 y 17 años, divididos según el género. Los datos se sometieron a un análisis de contenido semántico y a pruebas no paramétricas. Los resultados se categorizaron en siete estrategias de resolución de conflictos: Asunción de culpa, Sumisión, Mentira, Hostilidad, Diálogo/Explicación, Negociación y Otros. La forma de resolución más utilizada fue Diálogo/Explicación, y esta categoría fue una forma de defensa del dominio personal. Asimismo, se encontraron diferencias en función del género de los participantes y conforme la situación hipotética. Los resultados se discuten en términos de grado de autonomía y tipo de defensa del dominio personal.(AU)

Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment.

OBJECTIVE: Infertility is common among individuals with differences in sex development (DSD), and affected individuals and families desire fertility counseling. This survey sought to assess fertility knowledge and experiences with fertility counseling among DSD specialists for DSD conditions excluding congenital adrenal hyperplasia. DESIGN, SETTING, PARTICIPANTS, AND MEASURES: A survey was iteratively developed by members of the DSD-Translational Research Network (DSD-TRN) Fertility Preservation Workgroup and disseminated to 5 clinician groups: the DSD-TRN, the Society for Pediatric Psychology DSD Special Interest Group (SIG), the Pediatric Endocrine Society DSD-SIG, the Societies for Pediatric Urology, and the North American Society for Pediatric and Adolescent Gynecology. RESULTS: Completed surveys (n = 110) were mostly from pediatric urology (40.3%), gynecology (25.4%), and endocrinology (20.9%) specialists. Most (73/108, 67.6%) respondents reported discussing fertility potential. Sixty-seven responded to questions regarding fertility potential. Many participants answered questions about the presence of a uterus in individuals with 46,XY complete gonadal dysgenesis and about the potential for viable oocytes in individuals with 46,XY partial gonadal dysgenesis incorrectly. Comments acknowledged the need for further education on fertility in individuals with DSD. CONCLUSIONS: Many DSD providers have some knowledge of fertility potential, but knowledge gaps remain. Experts expressed a desire for education and accessible resources to counsel effectively about fertility potential for individuals with DSD.

Increasing Knowledge and Self-Efficacy on Differences in Sex Development (DSD): A Team-Based Learning Activity for Pediatric Residents.

Introduction: Differences in sex development (DSD) are a heterogenous group of conditions estimated to affect 1 in 4500 infants. A paradigm shift has occurred in societal and cultural acceptance of variant gender outcomes along with increased awareness around diagnostic uncertainty inherent to DSD. Lack of provider knowledge in evaluation of DSD and/or awareness of evolving paradigms relevant to care for patients with DSD can accentuate barriers to access optimal care for this already vulnerable population. Methods: To address this unmet need, we used Kern's six-step framework and piloted a team-based learning (TBL) activity for pediatric residents and medical students (36 learners). This included preactivity reading, an 11-item self-efficacy survey around treatment of patients with DSD at the beginning of the TBL, and a seven-question individual readiness assurance test (RAT). Mixed teams of five to seven learners completed the RAT in small groups followed by large-group discussion. An application exercise followed with two cases focused on initial evaluation of a newborn/child with suspected DSD and an older child with suspected DSD. At the conclusion, learners repeated the self-efficacy measure and answered several evaluation questions. Results: Individual RAT scores had a mean of 59%, while groups scored with a mean of 82%. Mean self-efficacy scores also increased significantly from 2.4 to 3.4 on a 5-point scale. Of learners, 80% agreed or strongly agreed that the activity was effective for improving DSD skills and knowledge. Discussion: TBL is a valuable educational strategy to enhance knowledge and self-efficacy of DSD care for general pediatricians.

Application of a combined aggregate exposure pathway and adverse outcome pathway (AEP-AOP) approach to inform a cumulative risk assessment: A case study with phthalates.

Advancements in measurement and modeling capabilities are providing unprecedented access to estimates of chemical exposure and bioactivity. With this influx of new data, there is a need for frameworks that help organize and disseminate information on chemical hazard and exposure in a manner that is accessible and transparent. A case study approach was used to demonstrate integration of the Adverse Outcome Pathway (AOP) and Aggregate Exposure Pathway (AEP) frameworks to support cumulative risk assessment of co-exposure to two phthalate esters that are ubiquitous in the environment and that are associated with disruption of male sexual development in the rat: di(2-ethylhexyl) phthalate (DEHP) and di-n-butyl phthalate (DnBP). A putative AOP was developed to guide selection of an in vitro assay for derivation of bioactivity values for DEHP and DnBP and their metabolites. AEPs for DEHP and DnBP were used to extract key exposure data as inputs for a physiologically based pharmacokinetic (PBPK) model to predict internal metabolite concentrations. These metabolite concentrations were then combined using in vitro-based relative potency factors for comparison with an internal dose metric, resulting in an estimated margin of safety of ~13,000. This case study provides an adaptable workflow for integrating exposure and toxicity data by coupling AEP and AOP frameworks and using in vitro and in silico methodologies for cumulative risk assessment.

Protecting young Black female sexuality.

In the USA, Black girls and women face significant health disparities and disproportionately experience violence, racism, discrimination, stereotype messaging and elevated STI/HIV rates. Research shows the importance of familial systems and effective communication in decreasing risky behaviours among Black girls. This grounded theory study explored the sociocultural conditions that influence the process of becoming a sexual Black woman. Analytic results of interviews with 20 Black women identified protection as a major category associated with Black female sexual development and related risk behaviour. This paper describes the role of Black women as protectors of young Black female sexuality, the sociocultural protective strategies they used across the life course and the consequences of absent protection. Findings can inform future evidence-based, culturally sensitive interventions to promote the sexual health and development of Black girls and women in the USA.

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet.

The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.

Challenges and Opportunities in Adolescent Gynecology Patients with Surgically-Treated Congenital and Acquired Anomalies: Transition of Care from Pediatric to Adult Surgery.

The transition from adolescence to young adulthood in patients with reproductive health care needs such as disorders of sexual development and congenital anomalies is a complex process that occurs over several years. The transition process for these patients is still poorly understood. The patients with disorders of sexual development and reproductive issues have specific and unique issues regarding timing of disclosure of diagnosis, genital examinations, gonadectomy, vaginal treatments, surgical procedures, hormone replacement therapy, use of long-term medication, and potential cancer screening. The purpose of this review is to briefly describe complex genital malformations and their associated anomalies with long-term concerns and then provide an overview of what has been published at this time regarding the transition of care to provide some guidance for providers who care for those patients.

Historicizando a transexualidade em direção a uma psicologia comprometida / Historicizing transsexuality toward a committed psychology / Historizando la transexualidad hacia una psicología comprometida

A despatologização das identidades transexuais e travestis tem sido uma luta árdua e conta com a colaboração de diversos setores, como movimentos sociais e categorias profissionais. Atualmente conquistas consideráveis a esse respeito já podem ser identificadas, entre elas, a retirada da seção dos transtornos mentais na Classificação Internacional de Doenças (CID-11), passando para condições relativas à saúde sexual. Também a Psicologia tem assumido postura participativa a favor da diversidade de gênero, assim como das orientações sexuais. Neste contexto, o presente trabalho se estrutura em modelo de ensaio científico de cunho feminista que discorre sobre as reflexões acima e demais informações atualizadas sobre essa demanda aparente, através do ponto de vista de uma psicóloga que está enquanto coordenadora de um grupo de trabalho a respeito da população LGBT no CRP 3ª região-BA e dos atuais debates do Sistema Conselhos na defesa dos Direitos Humanos. A exemplo, ações do Conselho Federal de Psicologia, e seus respectivos regionais engajados nas causas LGBT, vêm se intensificando para repensar paradigmas e enfrentar as disparidades sustentadas pela patologização da população transexual e travesti. Haja vista que se trata de um campo ainda incipiente na profissão, torna-se útil visibilizar atuações contemporâneas no sentido de colaborar com o desenvolvimento da temática na Psicologia como ciência e profissão.(AU)

The depathologization of transsexual and transvestite identities involves a fight against the disease and has had the contributions of several sectors, such as social movements and professional categories. Currently, some considerable achievements in this regard can be identified., among them, a withdrawal from the metadata of Mental Disorders in the International Classification of Diseases (ICD-11), of the conditions related to sexual health. Psychology has also been in favor of gender diversity as well as sexual orientations. In this context, the present work is structured as a feminist scientific demonstration that discusses the above reflections and the latest information on this demand, from the point of view of a Psychologist that coordinates a work group for the respect of the LGBT population in the 3rd CRP in the BA region and the current debates of the Council System in the defense of Human Rights. For example, the actions of the Federal Council of Psychology and its respective regional councils engaged in LGBT causes have intensified to reprehend paradigms and face the inequalities sustained by the pathologization of the transsexual and transvestite population. Since it is a field still incipient in the profession, it becomes useful to visualize contemporary performances to collaborate with the development of this subject in Psychology as science and profession.(AU)

La despatologización de las identidades transexuales y travestis ha sido una lucha ardua y cuenta con la colaboración de varios sectores, como los movimientos sociales y las categorías profesionales. Ya se pueden identificar logros considerables a este respecto, entre ellos, la eliminación de la sección de trastornos mentales en la Clasificación Internacional de Enfermedades (CIE-11), pasando a condiciones relacionadas con la salud sexual. La psicología también ha tomado una postura participativa a favor de la diversidad de género, así como las orientaciones sexuales. En este contexto, el presente trabajo está estructurado en un modelo de ensayo científico feminista que discute las reflexiones anteriores y otra información actualizada sobre esta aparente demanda, desde el punto de vista de una psicóloga que está coordinando un grupo de trabajo sobre población LGBT en el CRP 3º región-BA y los debates actuales del Sistema de Consejos en defensa de los Derechos Humanos. Por ejemplo, las acciones del Consejo Federal de Psicología, y sus respectivos grupos regionales involucrados en causas LGBT, se han intensificado para repensar los paradigmas y abordar las disparidades sostenidas por la patologización de la población transgénero y travesti. Teniendo en cuenta que este campo aún es incipiente en la profesión, es útil hacer visibles las acciones contemporáneas para colaborar con el desarrollo del tema en Psicología como ciencia y profesión.(AU)

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.

BACKGROUND/AIMS: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). METHODS: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical registry. Internal reliability of the PAT-DSD was tested using the Kuder-Richardson-20 coefficient. Validity was examined by exploring the correlation of the PAT-DSD with other measures of caregiver distress and child emotional-behavioral functioning. RESULTS: One-third of families demonstrated psychosocial risk (27.9% "Targeted" and 6.1% "Clinical" level of risk). Internal reliability of the PAT-DSD Total score was high (α = 0.86); 4 of 8 subscales met acceptable internal reliability. A priori predicted relationships between the PAT-DSD and other psychosocial measures were supported. The PAT-DSD Total score related to measures of caregiver distress (r = 0.40, p < 0.001) and to both caregiver-reported and patient self-reported behavioral problems (r = 0.61, p < 0.00; r = 0.37, p < 0.05). CONCLUSIONS: This study provides evidence for the reliability and validity of the PAT-DSD. Given variability in the internal reliability across subscales, this measure is best used to screen for overall family risk, rather than to assess specific psychosocial concerns.

Relation of oxygen uptake to work rate in prepubertal healthy children - reference for VO2 /W-slope and effect on cardiorespiratory fitness assessment.

PURPOSE: Exercise testing by cycle ergometer allows to observe the interaction between oxygen uptake (VO2 ) and workload (W), and VO2 /W-slope can be used as a diagnostic tool. Respectively, peak oxygen uptake (VO2PEAK ) can be estimated by maximal workload. We aim to determine reference for VO2 /W-slope among prepubertal children and define agreement between estimated and measured VO2PEAK . METHODS: A total of 38 prepubertal children (20 girls) performed a maximal cycle ergometer test with respiratory gas analysis. VO2 /W-slopes were computed using linear regression. Agreement analysis by Bland and Altman for estimated and measured VO2PEAK was carried out including limits of agreement (LA). Determinants for VO2 /W-slopes and estimation bias were defined. RESULTS: VO2/W-slope was in both girls and boys ≥9·4 and did not change with exercise level, but the oxygen cost of exercise was higher among physically more active children. Estimated VO2PEAK had 6·4% coefficient of variation, and LA varied from 13% underestimation to 13% overestimation. Bias had a trend towards underestimation along lean mass proportional VO2PEAK . The primary determinant for estimation bias was VO2/W-slope (ß = -0·65; P<0·001). CONCLUSION: The reference values for VO2 /W-slope among healthy prepubertal children were similar to those published for adults and among adolescents. Estimated and measured VO2PEAK should not be considered to be interchangeable because of the variation in the relationship between VO2 and W. On other hand, variation in the relationship between VO2 and W enables that VO2 /W-slope can be used as a diagnostic tool.

Efeito da maturação sexual na avaliação nutricional de adolescentes / Effect of sexual maturation on the nutritional assessment of adolescents

Introdução - A avaliação do estado nutricional de adolescentes é usualmente realizada com base no índice de massa corporal (IMC) sem levar em consideração a maturação sexual. As alterações da composição corporal se expressam via modificações das características antropométricas, frações corporais e bioquímicas com impactos relevantes na análise do estado nutricional.A elevada variabilidade dessas características leva alguns autores a fundamentar de modo diverso a necessidade de ajuste prévio da maturação sexual para avaliação nutricional de adolescentes. Objetivo - Analisar os efeitos das relações entre maturação sexual e variáveis antropométricas, da composição corporal e dos parâmetros bioquímicos sobre o estado nutricional de adolescentes na faixa de 10 a 15 anos. Métodos- A amostra foi composta por 833 adolescentes escolares de 10 a 15 anos selecionados por amostragem complexa, residentes em Piracicaba (SP), 2012. Os fenótipos corporais foram inicialmente definidos por análise de componentes principais (ACP) a partir de dados antropométricos (massa corporal, altura, dobras cutâneas e circunferência da cintura), composição corporal (ângulo de fase), bioquímicos (triglicerídeos, glicose, razão colesterol total/LDL e hemoglobina), maturação sexual (auto-classificação segundo critério proposto por Tanner) e demográficos (sexo e idade). Esta primeira ACP apresentou caráter descritivo, para reconhecer a formação dos fenótipos corporais. Posteriormente, as variáveis de maturação sexual foram retiradas da ACP e aplicou-se novamente a ACP com as demais variáveis, os componentes gerados na ACP foram considerados desfechos na análise dos efeitos mistos para dimensionar o efeito da interferência da maturação sexual sobre os fenótipos corporais. No primeiro nível da análise utilizou-se sexo como ajuste. No segundo nível do modelo utilizou-se as variáveis de maturação sexual, e como ajuste idade, sexo e escore socioeconômico. Resultados Na primeira ACP foram definidos 4 fenótipos corporais: FC1 composto por dobras cutâneas, massa corporal e circunferência da cintura (expressão de gordura e volume corporal); FC2 composto por maturação sexual (pelos pubianos, mama e gônada), altura e idade (expressão do eixo cronológico); FC3 composto por colesterol e triglicerídeos (expressão de marcadores metabólicos associados à gordura corporal) e FC4 composto por ângulo de fase, hemoglobina e glicose (carga fatorial negativa) (expressão de marcadores metabólicos associados à massa magra). Na segunda ACP manteve-se a formação de 4 fenótipos corporais: FC1 apresentou a mesma formação, com a inclusão da hemoglobina com carga negativa; FC2 inclusão da massa corporal, ângulo de fase e hemoglobina; FC3 triglicerídeo, colesterol, hemoglobina e ângulo de fase e FC4 triglicerídeo, glicose e carga negativa para hemoglobina. O único fenótipo corporal que se associou à maturação sexual foi o FC2, também associado à altura e idade. Esse fenótipo expressa o crescimento físico e composição corporal típicos da puberdade. Com a análise dos efeitos mistos mostramos que a maturação sexual explica 78 por cento do FC2, enquanto para FC1 31 por cento FC3 0,59 por cento e FC4 1,06 por cento para pelos pubianos, para gônada e mama a maturação sexual explica 73 por cento do FC2, enquanto para FC1 2,45 por cento FC3 0,25 por cento e FC4 6,9 por cento . Conclusões - O uso dos fenótipos corporais indica a independência da avaliação nutricional na adolescência com relação à maturação sexual

Introduction - Analysis of nutritional status of adolescents is usually based on body mass index (BMI) without taking to account sexual maturation. Changes in body composition are expressed via modifications of anthropometric characteristics, body and biochemical fractions with relevant impact on the analysis of the nutritional status. The high variability of these features takes some authors to substantiate otherwise the need for prior adjustment of sexual maturation for nutritional assessment of adolescent. Objective - To analyze the effects of the relationships between sexual maturation and anthropometric variables, body composition and biochemical parameters about the nutritional status of adolescents from 10 to 15 years. Methods - The sample was composed by 833 school teenagers of 10 to 15 years selected by complex sampling, living in Piracicaba (SP), 2012. The body phenotypes were defined by principal component analysis (PCA) from anthropometric data (body mass, height, skinfolds and waist circumference), body composition (phase angle), biochemical (triglycerides, glucose, total cholesterol/LDL and hemoglobin), sexualmaturation (self-assessment criterion proposed by Tanner) and demographic (sex and age). This first ACP presented descriptive character, to recognize the formation of the corporal phenotypes. Subsequently, the sexual maturation variables were withdrawn from the ACP and re-applied to the ACP with the other variables, the components generated in the ACP were considered outcomes in the analysis of the mixed effects to measure the effect of the sexual maturation interference on the body phenotypes.In the first level of analysis we used the body phenotypes as outcome and sex as. In the second level of the model using the sexual maturation, and variables as age, sex and socioeconomic score. Results The first 4 body phenotypes were defined: FC1 composed by skinfolds, body weight and waist circumference (FAT expression and body volume); FC2 composed by sexual maturation (pubic hair, breast and gonad), height, and age (chronological axis expression); FC3 composed by cholesterol and triglycerides (expression of metabolic markers associated with body fat) and FC4 composed by phase angle, hemoglobin and glucose (factorial a negative load) (expression of metabolic markers associated with lean body mass). In the second PCA, the FC showed the same composition: FC1 presented the same formation, with the inclusion of hemoglobin with negative loading; FC2 inclusion of body mass, phase angle and hemoglobin; FC3 triglyceride, cholesterol, hemoglobin and phase angle and FC4 triglyceride, glucose and negative loading to hemoglobin. The only body which phenotype was associated to sexual maturation was the FC2, also associated with height and age. This phenotype is the physical growth and body composition typical of puberty. With the analysis of the mixed effects we show that sexual maturation explains 78 per cent of FC2, while for FC1 31 per cent 0.59 per cent FC3 and FC4 1.06 per cent to pubic hair, for gonad and sexual maturation breast explains 73 per cent of FC2, while for FC1 2.45 per cent 0.25 per cent and FC3 FC4 6.9 per cent . Conclusions The use of body phenotypes indicates the independence of nutritional assessment in adolescence in relation to sexual maturation

A timecourse analysis of systemic and gonadal effects of temperature on sexual development of the red-eared slider turtle Trachemys scripta elegans.

Temperature dependent sex determination (TSD) is the process by which the environmental temperature experienced during embryogenesis influences the sex of an organism, as in the red-eared slider turtle Trachemys scripta elegans. In accord with current paradigms of vertebrate sex determination, temperature is believed to exert its effects on sexual development in T. scripta entirely within the middle third of development, when the gonad is forming. However, whether temperature regulates the transcriptome in T. scripta early embryos in a manner that could influence secondary sex characteristics or establish a pro-male or pro-female environment has not been investigated. In addition, apart from a handful of candidate genes, very little is known about potential similarities between the expression cascade during TSD and the genetic cascade that drives mammalian sex determination. Here, we conducted an unbiased transcriptome-wide analysis of the effects of male- and female-promoting temperatures on the turtle embryo prior to gonad formation, and on the gonad during the temperature sensitive period. We found sexually dimorphic expression reflecting differences in steroidogenic enzymes and brain development prior to gonad formation. Within the gonad, we mapped a cascade of differential expression similar to the genetic cascade established in mammals. Using a Hidden Markov Model based clustering approach, we identified groups of genes that show heterochronic shifts between M. musculus and T. scripta. We propose a model in which multiple factors influenced by temperature accumulate during early gonadogenesis, and converge on the antagonistic regulation of aromatase to canalize sex determination near the end of the temperature sensitive window of development.

The Ashley Treatment: Improving Quality of Life or Infringing Dignity and Rights?

The 'Ashley treatment' (growth attenuation, removal of the womb and breasts buds of a severely disabled child) has raised much ethical controversy. This article starts from the observation that this debate suffers from a lack of careful philosophical analysis which is essential for an ethical assessment. I focus on two central arguments in the debate, namely an argument defending the treatment based on quality of life and an argument against the treatment based on dignity and rights. My analysis raises doubts as to whether these arguments, as they stand in the debate, are philosophically robust. I reconstruct what form good arguments for and against the treatment should take and which assumptions are needed to defend the according positions. Concerning quality of life (Section 2), I argue that to make a discussion about quality of life possible, it needs to be clear which particular conception of the good life is employed. This has not been sufficiently clear in the debate. I fill this lacuna. Regarding rights and dignity (section 3), I show that there is a remarkable absence of references to general philosophical theories of rights and dignity in the debate about the Ashley treatment. Consequently, this argument against the treatment is not sufficiently developed. I clarify how such an argument should proceed. Such a detailed analysis of arguments is necessary to clear up some confusions and ambiguities in the debate and to shed light on the dilemma that caretakers of severely disabled children face.

[Features of lipid peroxidation-antioxidant protection in adolescent girls in different groups of health].

UNLABELLED: Among the metabolic processes involved in the formation of physical and sexual development of adolescents recently the system of lipid peroxidation and antioxidant protection (LPO-AOP) supporting the redox state of organism and its adaptive response under the influence of different factors is highlighted. BACKGROUND: The aim of this work is an analysis LPO-AOP-parameters in adolescent girls of different groups of health depending on where they live. PATIENTS AND METHODS: We examined 143 girls aged 15-17 years who had the second and the third groups of health and lived in the village and the city. For assessment of LPO-AOP parameters spectrophotometric, spectrofluorometric and statistical methods were used. RESULTS: The combination of high concentration of unsaturated lipids with primary accumulation of lipid peroxidation products and the stable level of the end products of lipid peroxidation were found in girls rural both groups of health. State of the antioxidant defense system in girls of the village was characterized by a high content of its components, except for alpha-tocopherol. It concentration was reduced in girls of the third group of health. The levels of lipid peroxidation secondary intermediats were elevated and oxidized glutathione level was reduced in city girls of the third groups of health. CONCLUSION: The usage of oxidized glutathione for the prevention of exacerbations of chronic diseases in city girls of the third group of health is recommended.