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1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 46(4): 163-166, oct.-dic. 2019. tab, graf, ilus
Artigo em Espanhol | IBECS | ID: ibc-184305

RESUMO

Los trastornos relacionados con mutaciones del gen IRF6, comprenden desde una afectación casi asintomática con la única presencia de hoyuelos labiales que son la manifestación más sutil del síndrome de van der Woude, hasta manifestaciones congénitas graves que incluyen anomalías faciales, musculoesqueléticas y genitourinarias que corresponden al síndrome de pterigium poplíteo. Pese a que existe cierta relación fenotipo-genotipo entre las mutaciones del gen IRF6, estas tienen una penetrancia incompleta y una expresión variable, inter e intrafamiliar


The disorders related to IRF6 encompass a spectrum from an almost asymptomatic affectation, with the only presence of isolated lip pits, which are a mild presentation of van der Woude syndrome, to the presence in the other extreme, of congenital manifestations that include facial anomalies, musculoskeletal and genitourinary malformations, corresponding to popliteal pterygium syndrome. Although there is a certain phenotype-genotype relationship between mutations of the IRF6 gene, such mutations have incomplete penetrance and variable inter-and intra-familial expression


Assuntos
Humanos , Feminino , Gravidez , Adulto , Anormalidades Múltiplas/diagnóstico , Fenda Labial/diagnóstico , Dedos/anormalidades , Sindactilia/diagnóstico , Mutação , Fenda Labial/genética , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Feto/anormalidades
2.
Actas urol. esp ; 39(3): 175-182, abr. 2015. tab
Artigo em Espanhol | IBECS | ID: ibc-135359

RESUMO

Contexto: La integración del cuidado de la salud sexual en la práctica clínica es importante. En las mujeres con enfermedad del suelo pélvico se da más importancia a la evaluación de los defectos anatómicos, a la función urinaria y anorrectal que a la función sexual. Métodos: Se realizó una revisión y un análisis manual de las publicaciones relacionadas con la evaluación de la salud sexual en uroginecología, en Medline utilizando términos de búsqueda previamente definidos. Se incluyeron solo artículos publicados en inglés y en español. Resultados: Solo el 50% de las mujeres que consultan por un problema uroginecológico son sexualmente activas, de ellas el 60% refieren algún tipo de disfunción sexual. Los cuestionarios y las escalas de sexualidad facilitan la discusión entre la mujer y el profesional de la salud en los diversos aspectos de su vida sexual, su utilización rutinaria puede facilitar el diagnóstico de la disfunciones sexuales y un mejor control de los resultados de los tratamientos. El Pelvic Organ Prolapse Incontinence Sexual Questionnaire (PISQ) y el PISQ-IR (IUGA-revised) son los únicos cuestionarios de función sexual femenina validados que han sido desarrollados específicamente para evaluar la función sexual en mujeres con incontinencia urinaria y/o prolapso de órganos pélvicos. El PISQ-IR, además, permite evaluar el impacto en la función sexual en mujeres que no son sexualmente activas, así como en mujeres con incontinencia anal y está diseñado para su validación internacional. Conclusiones: La evaluación de la función sexual mediante cuestionarios específicos facilita la identificación de las disfunciones sexuales asociadas a la enfermedad del suelo pélvico. La inclusión de cuestionarios de sexualidad como medida de resultados permite analizar el impacto de los tratamientos aplicados en la vida sexual de las mujeres con problemas uroginecológicos


Context: Integrating sexual health in clinical practice is important. In women with pelvic floor disorders, the evaluation of the anatomical defects, lower urinary tract function and the anorectal function often receives more attention than the sexual function. Methods: Review of Medline using defined search terms to identify articles related to sexual health assessment in urogynecology and manual analyses was performed. Only articles published in English or Spanish were included. Results: Only 50% of women attending urogynecological clinics are sexually active. Of those, 60% present with some sort of sexual sexual dysfunction (FSD). Questionnaires and sexuality scales would facilitate discussion of sexual matters between the Health Care professionals and the women, and may increase the likelihood of FSD being diagnosed. The Pelvic Organ Prolapse Incontinence Sexual Questionnaire (PISQ) and the PISQ-IR (IUGA-Revised) are the only female sexual function specific questionnaires currently validated and developed specifically to assess sexual function in women with urinary incontinence and/or pelvic organ prolapse. Furthermore, the PISQ-IR also allows evaluation of the outcomes of women who are not sexually active when requiring urogynecologic care. PISQ-IR is also designed for international validation. In order to use the PISQ-IR in Spain, a proper interpretation and validation of the questionnaire is needed. Conclusions: The evaluation of sexual function through specific questionnaires facilitates the identification of the sexual dysfunctions associated to the pelvic floor disorders. The inclusion of sexuality questionnaires as an outcome measure allows to analyze the impact in the sexual life of women treated for an urogynecological problem


Assuntos
Humanos , Feminino , Incontinência Urinária/complicações , Prolapso de Órgão Pélvico/complicações , Saúde Sexual , Inquéritos e Questionários , Comportamento Sexual , Disfunções Sexuais Fisiológicas/etiologia , Diafragma da Pelve/patologia , Estudos Prospectivos , Complicações Pós-Operatórias , Resultado do Tratamento
3.
Actas Urol Esp ; 39(3): 175-82, 2015 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-25174768

RESUMO

CONTEXT: Integrating sexual health in clinical practice is important. In women with pelvic floor disorders, the evaluation of the anatomical defects, lower urinary tract function and the anorectal function often receives more attention than the sexual function. METHODS: Review of Medline using defined search terms to identify articles related to sexual health assessment in urogynecology and manual analyses was performed. Only articles published in English or Spanish were included. RESULTS: Only 50% of women attending urogynecological clinics are sexually active. Of those, 60% present with some sort of sexual sexual dysfunction (FSD). Questionnaires and sexuality scales would facilitate discussion of sexual matters between the Health Care professionals and the women, and may increase the likelihood of FSD being diagnosed. The Pelvic Organ Prolapse Incontinence Sexual Questionnaire (PISQ) and the PISQ-IR (IUGA-Revised) are the only female sexual function specific questionnaires currently validated and developed specifically to assess sexual function in women with urinary incontinence and/or pelvic organ prolapse. Furthermore, the PISQ-IR also allows evaluation of the outcomes of women who are not sexually active when requiring urogynecologic care. PISQ-IR is also designed for international validation. In order to use the PISQ-IR in Spain, a proper interpretation and validation of the questionnaire is needed. CONCLUSIONS: The evaluation of sexual function through specific questionnaires facilitates the identification of the sexual dysfunctions associated to the pelvic floor disorders. The inclusion of sexuality questionnaires as an outcome measure allows to analyze the impact in the sexual life of women treated for an urogynecological problem.


Assuntos
Prolapso de Órgão Pélvico/complicações , Comportamento Sexual , Disfunções Sexuais Fisiológicas/etiologia , Inquéritos e Questionários , Incontinência Urinária/complicações , Feminino , Humanos , Estudos Multicêntricos como Assunto , Estudos Observacionais como Assunto , Prolapso de Órgão Pélvico/psicologia , Prolapso de Órgão Pélvico/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/psicologia , Estudos Prospectivos , Disfunções Sexuais Fisiológicas/fisiopatologia , Disfunções Sexuais Fisiológicas/psicologia , Resultado do Tratamento , Incontinência Urinária/psicologia , Incontinência Urinária/cirurgia
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