RESUMEN
INTRODUCTION: It is recognized that for individuals living with endometriosis, receiving a diagnosis is psychosocially beneficial, but little is known about whether this is influenced by the way in which the disease is diagnosed. The primary objective of this study was to determine the impact of the diagnostic test method (clinical, diagnostic imaging, or diagnostic laparoscopy) of endometriosis on the individual's sense of control over their disease and their perceived access to social supports. The secondary objectives were to identify the impact of the diagnostic method on perceived social support, and to explore if there was a difference in the diagnostic method utilization between countries. MATERIAL AND METHODS: This retrospective cohort study reports on data collected using the Endometriosis Health Profile-30 (EHP-30) section of a previously published larger survey conducted between May and July 2020. Women aged 18-55 years who had received a diagnosis of endometriosis were recruited by social media platforms. The two domains of interest on the EHP-30 were control and powerlessness and social support. Scores on these domains were analyzed with diagnosis method as the variable of interest. RESULTS: In all, 1634 valid survey responses were received. There was a small statistically significant difference found between control and powerlessness scores for patients that received a diagnosis via imaging (ultrasound/MRI; n = 120) vs clinical diagnosis (n = 121) (p = 0.049). However, this did not reach clinical significance when covariates were controlled for (p = 0.054). No other comparisons reached statistical significance. CONCLUSIONS: The diagnostic method of endometriosis does not appear to have a clinically significant impact on an individual's sense of control over their disease nor their access to social supports. However, further research into these domains to delineate the true impact of the diagnostic method is required.
Asunto(s)
Endometriosis , Humanos , Femenino , Endometriosis/diagnóstico , Endometriosis/complicaciones , Calidad de Vida , Estudios Retrospectivos , Control Interno-Externo , Apoyo SocialRESUMEN
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including intellectual disability, global developmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder. Advances in genetic diagnostic technology have led to the identification of a number of NDD-associated genes, but reports of cognitive and developmental outcomes in affected individuals have been variable. The objective of this scoping review is to synthesize available information pertaining to the developmental outcomes of individuals with pathogenic variants in ten emerging recurrent NDD-associated genes identified from large scale sequencing studies; ADNP, ANKRD11, ARID1B, CHD2, CHD8, CTNNB1, DDX3X, DYRK1A, SCN2A, and SYNGAP1. After a comprehensive search, 260 articles were selected that reported on neurodevelopmental measures or diagnoses. We identify the spectrum of developmental outcomes for each genetic NDD, including prevalence of intellectual disability, frequency of co-morbid NDDs such as ADHD and autism, and commonly reported medical issues that can help inform diagnosis and treatment. There are significant gaps in our understanding of the natural history of these conditions. Future research focusing on barriers to assessment, the development of modified assessment tools appropriate for long-term outcomes in genetic NDD, and collection of longitudinal data will increase understanding of prognosis in these conditions and inform evaluations of treatment.
Asunto(s)
Comorbilidad , Estudios de Asociación Genética , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , ARN Helicasas DEAD-box/genética , Proteínas de Unión al ADN/genética , Proteínas de Homeodominio/genética , Humanos , Canal de Sodio Activado por Voltaje NAV1.2/genética , Proteínas del Tejido Nervioso/genética , Prevalencia , Proteínas Serina-Treonina Quinasas/genética , Proteínas Tirosina Quinasas/genética , Proteínas Represoras/genética , Factores de Transcripción/genética , beta Catenina/genética , Proteínas Activadoras de ras GTPasa/genética , Quinasas DyrKRESUMEN
OBJECTIVE: To determine the risk of recurrent spontaneous preterm birth (sPTB) following sPTB in singleton pregnancies. DESIGN: Systematic review and meta-analysis using random effects models. DATA SOURCES: An electronic literature search was conducted in OVID Medline (1948-2017), Embase (1980-2017) and ClinicalTrials.gov (completed studies effective 2017), supplemented by hand-searching bibliographies of included studies, to find all studies with original data concerning recurrent sPTB. STUDY ELIGIBILITY CRITERIA: Studies had to include women with at least one spontaneous preterm singleton live birth (<37 weeks) and at least one subsequent pregnancy resulting in a singleton live birth. The Newcastle-Ottawa Scale was used to assess study quality. RESULTS: Overall, 32 articles involving 55 197 women, met all inclusion criteria. Generally studies were well conducted and had a low risk of bias. The absolute risk of recurrent sPTB at <37 weeks' gestation was 30% (95% CI 27% to 34%). The risk of recurrence due to preterm premature rupture of membranes (PPROM) at <37 weeks gestation was 7% (95% CI 6% to 9%), while the risk of recurrence due to preterm labour (PTL) at <37 weeks gestation was 23% (95% CI 13% to 33%). CONCLUSIONS: The risk of recurrent sPTB is high and is influenced by the underlying clinical pathway leading to the birth. This information is important for clinicians when discussing the recurrence risk of sPTB with their patients.