Base de dados : LILACS
Pesquisa : G07.345.750 [Categoria DeCS]
Referências encontradas : 63 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 7 ir para página                  

  1 / 63 LILACS  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Id: biblio-1050858
Autor: Piazza, Mauri José.
Título: Desenvolvimento sexual e maturação puberal / Sexual and puberal development
Fonte: Femina;44(2):131-136, 20160630. ilus.
Idioma: pt.
Resumo: Os fenômenos do desenvolvimento sexual e puberal são eventos progressivos e coordenados. Dependem de fatores cromossômicos - gênicos, gonadais e hormonais. Tais eventos nos indivíduos do sexo masculino e feminino, sendo sincrônicos, permitirão um conveniente desenvolvimento sexual e puberal. Analisar tais fenômenos é o propósito deste estudo.(AU)

The sexual and puberal modifications are coordinate and progressive during differents life phases. Many factors are involved like genic-chromosomic, gonadal and hormonal. Those events that occurred in males and females are synchronous and to create a perfect development. Our proposal is review those situations.(AU)
Descritores: Puberdade/fisiologia
Desenvolvimento Sexual/fisiologia
-Menarca/fisiologia
Glândulas Endócrinas/metabolismo
Adrenarca/fisiologia
Genitália Feminina/crescimento & desenvolvimento
Genitália Masculina/crescimento & desenvolvimento
Gônadas/crescimento & desenvolvimento
Hormônios/metabolismo
Menstruação/fisiologia
Mamilos/crescimento & desenvolvimento
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Revisão
Responsável: BR1365.1 - Biblioteca Biomédica A - CB/A


  2 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo SciELO Brasil
Texto completo
Texto completo
Id: biblio-1136712
Autor: Bacil, Eliane Denise Araújo; Piola, Thiago Silva; Silva, Michael Pereira da; Bozza, Rodrigo; Fantineli, Edmar; Campos, Wagner de.
Título: Correlates of physical activity in adolescents of public schools in curitiba, paraná, brazil / Correlatos da atividade física em adolescentes de escolas públicas de curitiba, paraná
Fonte: Rev. Paul. Pediatr. (Ed. Port., Online);38:e2018329, 2020. tab.
Idioma: en.
Resumo: ABSTRACT Objective: To verify the association of nutritional status, biological maturation, social support and self-efficacy with the physical activity level of 2,347 students of both sexes, aged between 11 and 15 years old, enrolled in state schools in the city of Curitiba, Paraná, Brazil. Methods: Anthropometric measurements of body mass, height and sitting height were collected. The assessment of biological maturation was based on the analysis of the age at peak height and sexual maturity. The physical activity level, social support from parents and friends and self-efficacy were evaluated by self-reported questionnaires. Sex/age-specific body mass index (BMI) cutoff points identified the nutritional status. Gross and adjusted binary logistic regression were used to obtain odds (OR) ratios with 95% confidence intervals (95%CI), adopting p≤0.05 as significant. Results: More than half (52.3%; n=1,227) of students were active, with boys in a higher proportion (64.1%; p≤0.01). The correlates of physical activity were: nutritional status (OR 1.25; 95%CI 1.01-1.56), early somatic maturation (OR 0.71; 95%CI 0.54-0.93), moderate (OR 1.85; 95%CI 1.50-2.30) and high social support from parents (OR 2.70; 95%CI 2.11-3.42) and high social support from friends (OR 1.78; 95%CI 1.42-2.24). Conclusions: Nutritional status, early somatic maturation, social support of parents and friends were correlates of physical activity. Overweight girls with moderate and high parental support and boys with greater social support from parents and friends were more active. Girls with early somatic maturation were less active.

RESUMO Objetivo: Verificar a associação do estado nutricional, da maturação biológica, do apoio social e da autoeficácia com o nível de atividade física de 2.347 escolares, de ambos os sexos, com idades entre 11 e 15 anos, de escolas estaduais da cidade de Curitiba, Paraná. Métodos: Foram coletadas as medidas antropométricas de massa corporal, estatura e altura sentada. A avaliação da maturação biológica foi realizada pelas análises da idade do pico de velocidade de altura e maturação sexual. O nível de atividade física, o apoio social dos pais e dos amigos e a autoeficácia foram analisados por questionários autorreportados. O estado nutricional foi obtido por meio de pontos de corte de índice de massa corpórea (IMC) específicos para idade e sexo. Razões de chances com intervalos de confiança de 95% (IC95%) foram obtidas por meio da regressão logística binária bruta e ajustada, adotando-se p<0,05. Resultados: Pouco mais da metade (52,3%; n=1.227) dos escolares é ativa, sendo os meninos em maior proporção (64,1%; p≤0,01). Foram associados com atividade física: estado nutricional (Odds Ratio [OR] 1,25; IC95% 1,01-1,56), maturação somática precoce (OR 0,71; IC95% 0,54-0,93), moderado e elevado apoio social dos pais (OR 1,85; IC95% 1,50-2,30 e OR 2,70; IC95% 2,11-3,42, respectivamente) e elevado apoio social dos amigos (OR 1,78; IC95% 1,42-2,24). Conclusões: O estado nutricional, a maturação somática precoce, o apoio social dos pais e dos amigos foram correlatos da atividade física. Meninas com excesso de peso e com moderado e elevado apoio social dos pais, e meninos com maior apoio social dos pais e dos amigos foram mais ativos, enquanto meninas maturadas precocemente, menos ativas.
Descritores: Comportamento/fisiologia
Exercício Físico/fisiologia
Exercício Físico/psicologia
Comportamento do Adolescente/psicologia
-Instituições Acadêmicas
Apoio Social
Brasil
Modelos Logísticos
Razão de Chances
Fatores Sexuais
Estado Nutricional
Estudos Transversais
Autoeficácia
Saúde do Adolescente
Desenvolvimento Sexual
Autorrelato
Limites: Humanos
Masculino
Feminino
Criança
Adolescente
Responsável: BR1.1 - BIREME


  3 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Id: biblio-1050866
Autor: Piazza, Mauri José.
Título: Anomalias do desenvolvimento sexual / Abnormalities of sexual development
Fonte: Femina;44(3):201-206, 20160930. ilus.
Idioma: pt.
Resumo: As anormalidades da diferenciação sexual são infrequentes na prática clínica. A caracterização de uma ampla variedade de síndromes tem sido muitas vezes confusa, necessitando, com relativa frequência, a consulta de múltiplos livros e uso constante de referências para uma correta compreensão. O presente artigo tem a proposta de revisar as entidades mais frequentes, seus métodos diagnósticos e sua conveniente orientação.(AU)

Abnormal sexual differentiation is not frequently seen in an individual clinician's practice. The categories of many syndromes in this area require special and constant references to review many papers and books to understand these abnormalities. In this paper, the most frequent syndromes are described, and their diagnostic methods and proposals for correct orientation are provided.(AU)
Descritores: Diferenciação Sexual/genética
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/etiologia
Anormalidades Urogenitais/genética
-Transtornos do Desenvolvimento Sexual/embriologia
Útero/anormalidades
Vagina/anormalidades
Insuficiência Ovariana Primária
Desenvolvimento Sexual/genética
Transtornos Ovotesticulares do Desenvolvimento Sexual
Transtorno 46,XY do Desenvolvimento Sexual
Disgenesia Gonadal/embriologia
Ductos Paramesonéfricos/anormalidades
Limites: Humanos
Masculino
Feminino
Gravidez
Tipo de Publ: Revisão
Responsável: BR1365.1 - Biblioteca Biomédica A - CB/A


  4 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Texto completo
Id: biblio-1159581
Autor: Ocampo, Dolores; Rahman, Gisel; Giugno, Silvina; Risso, Paula; Rubinstein, Anahí V.
Título: Vulvovaginitis en una población pediátrica: relación entre el agente etiológico, la edad y el estadio de Tanner mamario / Vulvovaginitis in a pediatric population: relationship among etiologic agents, age and Tanner staging of breast development
Fonte: Arch. argent. pediatr;112(1):65-69, feb. 2014. tab, ilus.
Idioma: en; es.
Resumo: Introducción. La vulvovaginitis representa el 25% de las consultas en ginecología pediátrica. Objetivo. Evaluar las etiologías de las vulvovaginitis en función de la edad y el estadio de Tanner mamario. Material y métodos. Estudio descriptivo y transversal realizado entre el 1 de enero y el 31 de diciembre de 2011. Se analizaron pacientes con vulvovaginitis en función de dos variables: la edad (GI: 0 a 8,9 años; GII: 9 a 15,9 años y GIII: 16 a 18 años) y el estadio de Tanner mamario (I; II-III; IV-V). Resultados. Se incluyeron 229 pacientes; 78 niñas en GI, 134 en GII y 17 en GIII; en relación con el estadio de Tanner mamario, se agruparon 81 niñas en TI, 36 en TII-III y 112 TIV-V. Shigella y Oxiurus se presentaron con mayor frecuencia a temprana edad. Candida albicans, otras especies de Candida, Gardnerella y Ureaplasma urealyticum se observaron en niñas mayores. Oxiurus predominó en la etapa prepuberal y Candida albicans, en la pospuberal. Conclusiones. En relación con la etiología de las vulvovaginitis, la influencia hormonal es más relevante que la edad cronológica de la paciente.

Introduction. Vulvovaginitis accounts for 25% of all pediatric gynecology consultations. Objective. To assess the etiology of vulvovaginitis based on age and Tanner staging of breast development. Material and Methods. Descriptive, cross-sectional study conducted between January 1st and December 31st, 2011. Patients with vulvovaginitis were assessed based on two outcome measures: age group (GI: 0 to 8.9 years old, GII: 9 to 15.9 years old, and GIII: 16 to 18 years old), and the Tanner staging of breast development (I, II-III, IV-V). Results. Two hundred and twenty-nine patients were included, 78 girls in the GI group, 134 in the GII group, and 17 in the GIII group; 81 girls were classified as TI, 36 as TII-III, and 112 as TIV-V based on Tanner staging. Shigella and Oxyuris were the most commonly found etiologic agents in younger girls. Candida albicans, other Candida species, Gardnerella and Ureaplasma urealyticum were the germs most commonly observed in older patients. Oxyuris was predominant in prepubertal girls, while Candida albicans, in postpubertal girls. Conclusions. Hormonal influence was more relevant than the patient's age in terms of vulvovaginitis etiology.
Descritores: Vulvovaginite/etiologia
Mama/crescimento & desenvolvimento
Desenvolvimento Sexual
-Estudos Transversais
Estudos Retrospectivos
Fatores Etários
Limites: Humanos
Feminino
Criança
Adolescente
Responsável: AR94.1 - Centro de Información Pediatrica


  5 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
Id: lil-771663
Autor: Gaete, Verónica.
Título: Desarrollo psicosocial del adolescente / Adolescent psychosocial development
Fonte: Rev. chil. pediatr;86(6):436-443, dic. 2015.
Idioma: es.
Resumo: Resulta cada vez más necesario que los pediatras tengan mayores conocimientos de salud del adolescente. Para empezar, deben familiarizarse con el desarrollo psicosocial propio de este período, asunto indispensable para la atención del grupo etario. En este artículo se revisa el desarrollo psicosocial normal del adolescente con ese objetivo. La adolescencia es una etapa que se ha ido prolongando progresivamente, en la que ocurren cambios rápidos y de gran magnitud, que llevan a la persona a hacerse tanto biológica, como psicológica y socialmente madura, y potencialmente capaz de vivir en forma independiente. Son tareas del desarrollo de este período, la búsqueda y consolidación de la identidad y el logro de la autonomía. Si bien constituye un proceso de alta variabilidad individual en cuanto a su comienzo y término, a la progresión a través de sus etapas, a la sincronía del desarrollo entre los diversos ámbitos y en otros aspectos, el desarrollo psicosocial de este período tiende a presentar características comunes y un patrón progresivo de 3 fases: adolescencia temprana, media y tardía. En este artículo se describe el desarrollo psicológico, cognitivo, social, sexual y moral de los jóvenes en cada una de ellas.

It is increasingly necessary that pediatricians have greater knowledge of adolescent health. To begin with they should be familiar with the psychosocial development of this period, an issue which is imperative for the health care of the age group. With that purpose, this article reviews the normal adolescent psychosocial development. Adolescence is a stage that has been progressively prolonged, during which fast and big changes occur, that lead human beings to become biologically, psychologically and socially mature, and potentially able to live independently. Developmental tasks of this period are the establishment of identity and the achievement of autonomy. Although it is a process of high individual variability in terms of its beginning and end, the progression through stages, the synchrony of development between the various areas, and in other aspects, the psychosocial development of this period usually have common characteristics and a progressive pattern of 3 phases: early, middle and late adolescence. Psychological, cognitive, social, sexual and moral development of young people in each of them are described in this article.
Descritores: Cognição/fisiologia
Saúde do Adolescente
Desenvolvimento do Adolescente/fisiologia
-Autonomia Pessoal
Desenvolvimento Moral
Desenvolvimento Sexual/fisiologia
Limites: Humanos
Adolescente
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


  6 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Cuba
Texto completo
Id: lil-584456
Autor: Agramonte Machado, Adriana; Ledón Llanes, Loraine; Fabré Redondo, Bárbara; Espinosa Reyes, Tania; González Fernández, Pedro; Carvajal Martínez, Francisco; Montesinos Estévez, Teresa; García Álvarez, Caridad Teresita; Rodríguez Pérez, Martha; Díaz Bustelo, Angelina.
Título: Intersexualidad, necesidad del cambio en el paradigma de atención / Intersexuality: need of change in the care paradigm
Fonte: Rev. cuba. endocrinol;21(3):307-322, sep.-dic. 2010.
Idioma: es.
Resumo: El enfoque y tratamiento clínicos de la intersexualidad es un campo complejo y profundo, es además un terreno caracterizado por debates y polémicas en el que aún hay aspectos por dilucidar relativos al paradigma actual de atención de salud. La prescripción de terapias quirúrgicas y hormonales desde etapas tempranas de la vida está pautada, por lo que adquieren especial relevancia las experiencias y vivencias con los servicios de salud. Objetivos: describir la experiencia de personas diagnosticadas con trastornos del desarrollo sexual en los servicios de salud, y desde su perspectiva, caracterizar la relación médico-paciente y el modelo de atención de salud. Metodos: estudio exploratorio que utiliza como metodología cualitativa la entrevista en profundidad. Participaron 20 personas con el diagnóstico ya mencionado. Se realizó el análisis correspondiente de la técnica utilizada, y culminó con la triangulación de la información de bibliografía actualizada y análisis multidisciplinario. Los aspectos éticos fueron bien establecidos y aplicados. Alrededor de la mitad de los sujetos abandonaron los servicios de salud por decepción y desesperanza. Fueron identificadas iatrogenias en la gestión médica y paramédica. El proceso de medicalización se expresó en el discurso y en los procedimientos e intervenciones médicas implementadas. La relación médico-paciente fue muy importante en la vida de una mayoría, sin embargo la naturaleza de la relación fue vertical y unidireccional, caracterizada por el secreto médico y parental. Las vivencias de alienación se relacionaron con el rol desempeñado en el espacio institucional y con el desequilibrio de poder en la relación con el proveedor de salud. CONCLUSIONES: existen deficiencias en el modelo de atención. Se hallaron brechas entre los servicios ofrecidos y las necesidades y expectativas personales de atención de salud. El algoritmo que pauta la conducta a seguir no ha logrado la atención integral por el equipo interdisciplinario, ni el acompañamiento psicológico a la familia desde los primeros momentos del diagnóstico. Un nuevo paradigma de atención de salud debe ser privilegiado(AU)

The approach and clinical treatments of intersexuality is a complex and deep subject, it is also a field characterized by debates and controversies where still there are features to be elucidate in relation to current paradigm of health care. The prescription of surgical and hormonal therapies from early stages of life is regulated acquiring special relevance the experiences and situations related to the health services. Objetives: to describe the experiences of persons diagnosed with sexual development disorders in health services and from their perspective, to characterize the relation physician-patient and the health care form. Methods: present study uses as qualitative methodology the interview intimately and included 20 persons with the abovementioned diagnosis. The corresponding analysis of the technique used was carried out finishing with the triangulation of updated bibliography information and a multidisciplinary analysis. Ethical features were well established and applied. Results: Around the half of subjects gave up the health services due to disappointment and hopelessness. In medical and paramedical actions a iatrogenesis was identified. The medicine process was expressed in the speech and in the applied medical procedures and interventions. The relation physician-patient was very significant in the life of many persons, however, the relation nature was vertical and unidirectional, characterized by the medical and family secret. The alienation experiences were related to the role played in the institutional environment and to the power lack of balance in the relation with the health provider. Conclusions: there are deficiencies in care form and breaches among the services offered and the personal needs and expectations of health care. The algorithm giving guidelines for the behavior to follow neither has achieve the integral attention for the interdisciplinary team nor the psychological support to family from the firsts moments of diagnosis. A new health care paradigm must to be exceptional(AU)
Descritores: Relações Profissional-Paciente/ética
Transtornos do Desenvolvimento Sexual/diagnóstico
Serviços de Saúde/normas
Desenvolvimento Sexual
Relações Profissional-Família
-Comportamento Exploratório/ética
Limites: Humanos
Responsável: CU1.1 - Biblioteca Médica Nacional


  7 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Id: biblio-1125098
Autor: Hervas, Amaia; Pont, Carlota.
Título: Desarrollo afectivo-sexual en las personas con trastornos del espectro autista / Affective-sexual development in people with autistic spectrum disorders
Fonte: Medicina (B.Aires);80(supl.2):7-11, mar. 2020. tab.
Idioma: es.
Resumo: Los trastornos del espectro autista (TEA) son trastornos del neurodesarrollo que afectan la comunicación social y que presentan patrones de conducta repetitiva, estereotipada o/y inflexible. Un tercio de los casos diagnosticados de TEA tienen discapacidad intelectual y 2/3 una capacidad intelectual dentro de la norma. Los síntomas nucleares de autismo y otros asociados pueden afectar el desarrollo afectivo-sexual. En este artículo se expone qué dificultades en el desarrollo afectivo-sexual pueden presentar las personas con TEA y cuáles son las más frecuentemente descritas. Se propone de una manera breve, guías dirigidas a la evaluación y a la ayuda para un desarrollo afectivo-sexual satisfactorio en las personas con autismo-TEA.

Autistic spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present repetitive, stereotyped and inflexible behaviour. A third of the people with a diagnosis of ASD also have intellectual disability associated and two thirds present an intellectual capacity within the average range. The nuclear autistic and others associated symptoms can affect the affective and sexual development. This article exposes which are the problems people with ASD present in the affective and sexual development, the most frequently described and brief guides for evaluation and support for an adequate affective-sexual development in people with ASD.
Descritores: Sintomas Afetivos/fisiopatologia
Desenvolvimento Sexual/fisiologia
Transtorno do Espectro Autista/fisiopatologia
-Fatores Sexuais
Sintomas Afetivos/psicologia
Relações Interpessoais
Deficiência Intelectual/fisiopatologia
Limites: Humanos
Masculino
Feminino
Responsável: BR1.1 - BIREME


  8 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Texto completo
Id: biblio-1280909
Autor: Agüero, Gonzalo; Berner, Enrique.
Título: Concordancia en la medición testicular de varones adolescentes con 3 métodos de orquidometría / Concordance of testicular measurement in male adolescents with three methods of orchidometry
Fonte: Arch. argent. pediatr;119(4):251-258, agosto 2021. tab, ilus.
Idioma: en; es.
Resumo: Introducción. El orquidómetro de Prader es el método estándar para medir el volumen testicular (VT) en niños y adolescentes. Objetivo. Evaluar la concordancia en la estimación del VT y del inicio puberal con las técnicas de orquidometría de Prader, Chipkevitch y Sotos. Métodos. Diseño descriptivo transversal realizado en varones de entre 9 y 20 años. Se midió el VT (ml) en cada adolescente con las técnicas de Prader (método de referencia), Chipkevitch (modelo gráfico) y Sotos (medición de ancho testicular con regla plástica y fórmula equivalente a ecuación elipsoide). Se excluyeron varones con patología urogenital y enfermedades que afectan el crecimiento testicular. Para la concordancia entre métodos, se utilizó kappa para el inicio puberal, y coeficiente de correlación intraclase (CCI) y gráficos de Bland-Altman (GBA) para el VT. Resultados. Se incluyeron 377 varones sanos. Para la concordancia en VT (ml), la comparación Prader-Chipkevitch obtuvo CCI: 0,994 y p < 0,001; y de CCI; 0,312 y p < 0,001 para la de Prader-Sotos. En los GBA se halló una media de las diferencias cercana a 0 ml en la comparación Prader-Chipkevitch y cercana a 8 ml en la de Prader-Sotos. El acuerdo en el inicio puberal obtuvo un valor de kappa 0,93 en la comparación Prader-Chipkevitch y de 0,75 en la de Prader-Sotos. Conclusión. Los orquidómetros de Prader y Chipkevitch tienen una excelente concordancia en la estimación del VT y el inicio puberal; por lo tanto, podrían intercambiarse en la atención diaria de varones adolescentes. El método de Sotos mostró una concordancia buena en la estimación del inicio puberal, pero baja en la medición del VT

Introduction. The Prader orchidometer is the standard method used to measure testicular volume (TV) in children and adolescents. Objective. To assess the concordance in the estimation of TV and puberty onset with the Prader, Chipkevitch, and Sotos orchidometric techniques. Methods. Cross-sectional descriptive study conducted among male children and adolescents aged 9-20 years. For each adolescent, TV was measured with the methods by Prader (gold standard), Chipkevitch (graphic model), and Sotos (measurement of testicular width with a plastic ruler and use of a formula equivalent to the ellipsoid equation). Male children and adolescents with urogenital conditions and disorders affecting testicular growth were excluded. Kappa statistics was used to determine concordance among methods for puberty onset, and intraclass correlation coefficient (ICC) and Bland-Altman (B&A) plots for TV. Results. In total, 377 healthy males were included. Regarding the concordance for TV (mL), the Prader-Chipkevitch comparison obtained an ICC of 0.994 and a p < 0.001; while the Prader-Soto comparison obtained an ICC of 0.312 and a p < 0.001. With the B&A plots, mean differences were close to 0 mL in the Prader-Chipkevitch comparison and close to 8 mL in the Prader-Sotos comparison. Concordance for puberty onset obtained a kappa value of 0.93 and 0.75 in the Prader-Chipkevitch and Prader-Sotos comparisons, respectively. Conclusion. The Prader and Chipkevitch orchidometers show an excellent concordance in estimating TV and puberty onset; therefore, both methods could be used interchangeably in the daily care of male adolescents. The Sotos method showed a high concordance in estimating pubertal onset, but low in measuring TV.
Descritores: Testículo/anatomia & histologia
Desenvolvimento Sexual
-Pediatria/instrumentação
Testículo/crescimento & desenvolvimento
Antropometria/instrumentação
Estudos Transversais
Puberdade
Limites: Humanos
Masculino
Criança
Adolescente
Responsável: AR94.1 - Centro de Información Pediatrica


  9 / 63 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Texto completo
Id: biblio-1144390
Autor: Soto, Álvaro López.
Título: Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal
Fonte: Rev. colomb. obstet. ginecol;71(3):275-285, jul.-set. 2020.
Idioma: es.
Resumo: RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and methods: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is made on ways to improve the specialty. Conclusion: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.
Descritores: Anormalidades Urogenitais
-Diagnóstico Pré-Natal
Ultrassonografia
Desenvolvimento Sexual
Doenças Fetais
Limites: Humanos
Masculino
Feminino
Responsável: CO76


  10 / 63 LILACS  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Mendonça, Berenice B
Texto completo
Id: biblio-1153974
Autor: Montenegro, Luciana R; Lerário, Antônio M; Nishi, Miriam Y; Jorge, Alexander A L; Mendonca, Berenice B.
Título: Performance of mutation pathogenicity prediction tools on missense variants associated with 46, XY differences of sex development
Fonte: Clinics;76:e2052, 2021. tab, graf.
Idioma: en.
Projeto: Fapesp; . CNPq.
Resumo: OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare disease-causing SNVs remains challenging, and often requires functional in vitro studies. Prioritizing the most likely pathogenic SNVs is of utmost importance, and several computational methods have been developed for this purpose. However, these methods are based on different assumptions, and often produce discordant results. The aim of the present study was to evaluate the performance of 11 widely used pathogenicity prediction tools, which are freely available for identifying known pathogenic SNVs: Fathmn, Mutation Assessor, Protein Analysis Through Evolutionary Relationships (Phanter), Sorting Intolerant From Tolerant (SIFT), Mutation Taster, Polymorphism Phenotyping v2 (Polyphen-2), Align Grantham Variation Grantham Deviation (Align-GVGD), CAAD, Provean, SNPs&GO, and MutPred. METHODS: We analyzed 40 functionally proven pathogenic SNVs in four different genes associated with differences in sex development (DSD): 17β-hydroxysteroid dehydrogenase 3 (HSD17B3), steroidogenic factor 1 (NR5A1), androgen receptor (AR), and luteinizing hormone/chorionic gonadotropin receptor (LHCGR). To evaluate the false discovery rate of each tool, we analyzed 36 frequent (MAF>0.01) benign SNVs found in the same four DSD genes. The quality of the predictions was analyzed using six parameters: accuracy, precision, negative predictive value (NPV), sensitivity, specificity, and Matthews correlation coefficient (MCC). Overall performance was assessed using a receiver operating characteristic (ROC) curve. RESULTS: Our study found that none of the tools were 100% precise in identifying pathogenic SNVs. The highest specificity, precision, and accuracy were observed for Mutation Assessor, MutPred, SNP, and GO. They also presented the best statistical results based on the ROC curve statistical analysis. Of the 11 tools evaluated, 6 (Mutation Assessor, Phanter, SIFT, Mutation Taster, Polyphen-2, and CAAD) exhibited sensitivity >0.90, but they exhibited lower specificity (0.42-0.67). Performance, based on MCC, ranged from poor (Fathmn=0.04) to reasonably good (MutPred=0.66). CONCLUSION: Computational algorithms are important tools for SNV analysis, but their correlation with functional studies not consistent. In the present analysis, the best performing tools (based on accuracy, precision, and specificity) were Mutation Assessor, MutPred, and SNPs&GO, which presented the best concordance with functional studies.
Descritores: Biologia Computacional
Mutação de Sentido Incorreto/genética
-Virulência
Polimorfismo de Nucleotídeo Único
Desenvolvimento Sexual
Mutação
Limites: Humanos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



página 1 de 7 ir para página                  
   


Refinar a pesquisa
  Base de dados : Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde
WXIS|fatal error|unavoidable|recxref/read|