RESUMEN
OBJECTIVE: Lynch syndrome (LS) is a hereditary condition associated with an increased risk of colorectal and endometrial cancer. This study aimed to assess the knowledge, attitudes, and beliefs of women with LS regarding combined hormonal contraceptive (CHC) use compared to a control group of healthy women. METHODS: Pre-menopausal women with LS (n = 43) and an age-matched control group of healthy women (n = 128) participated in this prospective, cross-sectional study (NCT05909410). Participants completed an electronic questionnaire evaluating perceptions of CHC use and its impact on various cancers, medical conditions, and symptoms. Statistical analysis compared responses between the two groups, with reported p-values. RESULTS: Women with LS were less likely to use CHCs compared to the control group (p = 0.03) and had a more negative perception of CHCs' impact on colorectal cancer (p = 0.023) and endometrial cancer (p = 0.028). Limited knowledge was observed in both groups regarding the protective effects of CHCs against colorectal and ovarian cancer. Perceptions of CHC use and its impact on symptoms and chronic diseases did not significantly differ between the groups (p > 0.05). CHC use was not associated with greater awareness of the protective effect against colorectal (p = 0.89) and endometrial cancer (p = 0.47), but it was associated with a desire for contraception (OR 21.25; 95% CI 1.16 to 388.21; p = 0.039). CONCLUSION: This study highlights contrasting perceptions of CHCs and their implications in oncology between women with LS and healthy women. Tailored counselling and support strategies are crucial for empowering women with LS to make informed decisions about their gynaecologic health.
This study illuminates divergent perceptions of combined hormonal contraceptives and their oncological implications between women with Lynch syndrome and healthy women.Tailored counseling and supportive strategies are essential for empowering women with Lynch syndrome to make informed decisions regarding their gynecologic health.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis , Conocimientos, Actitudes y Práctica en Salud , Humanos , Femenino , Neoplasias Colorrectales Hereditarias sin Poliposis/psicología , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Adulto , Estudios Transversales , Estudios Prospectivos , Persona de Mediana Edad , Encuestas y Cuestionarios , Neoplasias Endometriales/psicología , Medición de Riesgo , Anticonceptivos Orales Combinados/efectos adversos , Estudios de Casos y Controles , Percepción , Anticonceptivos Hormonales Orales/efectos adversosAsunto(s)
Anomalías Múltiples/genética , Dosificación de Gen/genética , Predisposición Genética a la Enfermedad , Hernia Diafragmática/genética , Proteínas de Dominio T Box/genética , Anomalías Múltiples/mortalidad , Anomalías Múltiples/patología , Feto Abortado/anomalías , Femenino , Hernia Diafragmática/mortalidad , Hernia Diafragmática/patología , Humanos , Masculino , Índice de Severidad de la EnfermedadRESUMEN
Fetal HCMV infection is investigated by amniocentesis when a maternal primary infection is diagnosed or ultrasound (US/MRI) abnormalities are observed. In fetal blood, prognostic markers of symptomatic congenital infection may be evaluated for parental counseling. At birth, viral load measurement in body fluids may correlate with long-term sequelae, but the prognostic accuracy of symptomatic infection increases when maternal, fetal, and neonatal parameters are combined.
Asunto(s)
Infecciones por Citomegalovirus/diagnóstico , Enfermedades Fetales/diagnóstico , Amniocentesis , Biomarcadores/sangre , Biomarcadores/orina , Consejo , Infecciones por Citomegalovirus/congénito , Femenino , Humanos , Recién Nacido , Transmisión Vertical de Enfermedad Infecciosa , EmbarazoRESUMEN
Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements. We describe four supernumerary marker chromosomes that, after array-CGH, were interpreted rather differently in respect to the early classification made by conventional cytogenetics and FISH investigations, reporting two types of complex markers which DNA content was overlooked by conventional approaches: 1. the sSMC contains non-contiguous regions of the same chromosome and, 2. the sSMC, initially interpreted as a supernumerary del(15), turns out to be a derivative 15 to which the portion of another chromosome was attached. All are likely derived from partial trisomy rescue events, bringing further demonstration that germline chromosomal imbalances are submitted to intense reshuffling during the embryogenesis, leading to unexpected complexity and changing the present ideas on the composition of supernumerary marker chromosomes.