One-Step Nucleic Acid Amplification (OSNA) of Sentinel Lymph Node in Early-Stage Endometrial Cancer: Spanish Multicenter Study (ENDO-OSNA).

The objective of this study was to evaluate the efficacy of one-step nucleic acid amplification (OSNA) for the detection of sentinel lymph node (SLN) metastasis compared to standard pathological ultrastaging in patients with early-stage endometrial cancer (EC). A total of 526 SLNs from 191 patients with EC were included in the study, and 379 SLNs (147 patients) were evaluated by both methods, OSNA and standard pathological ultrastaging. The central 1 mm portion of each lymph node was subjected to semi-serial sectioning at 200 µm intervals and examined by hematoxylin-eosin and immunohistochemistry with CK19; the remaining tissue was analyzed by OSNA for CK19 mRNA. The OSNA assay detected metastases in 19.7% of patients (14.9% micrometastasis and 4.8% macrometastasis), whereas pathological ultrastaging detected metastasis in 8.8% of patients (3.4% micrometastasis and 5.4% macrometastasis). Using the established cut-off value for detecting SLN metastasis by OSNA in EC (250 copies/µL), the sensitivity of the OSNA assay was 92%, specificity was 82%, diagnostic accuracy was 83%, and the negative predictive value was 99%. Discordant results between both methods were recorded in 20 patients (13.6%). OSNA resulted in an upstaging in 12 patients (8.2%). OSNA could aid in the identification of patients requiring adjuvant treatment at the time of diagnosis.

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

Rare diseases (RDs) as a whole affect a huge number of individuals although each specific condition comprises a low number of individuals. As a consequence, funds allocated to expand research to all conditions are often limited. Several initiatives have emerged to invest more resources for research in RDs, but patients express unmet needs regarding educational initiatives, awareness support, and psychosocial resources. We developed an educational training program in the format of weekly sessions covering basic medical scientific knowledge and psychosocial aspects of RDs. The aim of this initiative was to assess its overall impact regarding knowledge, psychological issues, and participant satisfaction. Items were evaluated through surveys before and after the sessions. Here, we report the experience and impact of two editions of this initiative with a total of 37 participants. Our results show improvements in knowledge and better management of the psychological impact. Moreover, participants were able to exchange experiences and concerns, most of which were shared even though the RDs were different. Overall, the program was evaluated by the participants as a highly beneficial experience and all of them were interested in attending advanced editions.

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

BackgroundFetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy; although additional factors might be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS.MethodsA panel of 74 genes involved in N-glycosylation was sequenced in 25 FAS patients and 20 controls with prenatal alcohol exposure. Transferrin glycoforms were evaluated by HPLC.ResultsRare (minor allele frequency<0.009) missense/splice site variants were more frequent in FAS than controls (84% vs. 50%; P=0.034, odds ratio: 5.25, 95% confidence interval: 1.3-20.9). Remarkably, three patients, but no controls, carried variants with functional effects identified in CDG patients. Moreover, the patient with the most severe clinical phenotype was the only one carrying two variants with functional effects. Family studies support that the combination of a genetic defect and alcohol consumption during pregnancy might have a role in FAS development.ConclusionsOur study supports that the rare variants of genes involved in N-glycosylation could play a role in the development and severity of FAS under prenatal alcohol exposure.

Embolización de las arteriasuterinas en el tratamiento delmioma uterino sintomático. Resultados en 90 pacientesa los 2 años / Uterine artery embolization in the treatment of symptomatic uterine myoma: 2-year outcomes in 90 patients

Objetivo: Evaluar los resultados a medio plazo yla satisfacción de las pacientes después de laembolización de las arterias uterinas en mujerescon miomas uterinos sintomáticos, así como laseguridad del tratamiento.Material y métodos: Estudio prospectivo queincluye 90 casos tratados en el Hospital deSabadell, entre diciembre del 2002 y octubre del2006.La recogida de datos se realizó mediante uncuestionario introducido posteriormente en unabase de datos específica; el análisis estadístico serealizó con el programa SPSS 15.0.Todas las pacientes tuvieron un seguimientode 2 años después del procedimiento a nivelclínico, analítico y mediante técnicas deimagen.Los síntomas fueron valorados como desaparición omejoría, sin cambios o empeoramiento. Los efectosadversos se anotaron según la clasificación de laSociedad de Radiología Intervencionista. Tambiénse recogió la satisfacción de las mujeresembolizadas.Se consideró un fracaso de la técnica la necesidadde histerectomía o la persistencia de clínica.Resultados: La mejoría de los síntomas a los 2años fue del 90,7%. En 4 casos se practicó unasegunda embolización y en 6 casos se realizó unahisterectomía.A los 6 meses, el 92,8 % de los miomas mostrabanuna vascularización nula o escasa. A los 2 años, ladisminución media en el volumen del miomadominante fue del 76,3%.El porcentaje de complicaciones mayores fue del12,7%.La satisfacción por el procedimiento fue del 90,2%.Conclusiones: La embolización de las arteriasuterinas en mujeres con miomas uterinossintomáticos es un tratamiento efectivo con unabuena aceptación de las pacientes después de unseguimiento a medio plazo (AU)

To evaluate the mid-term outcomes andpatient satisfaction following UAE in women withsymptomatic leiomyomata, as well as to assesssafety treatment.Material and methods: Prospective study of 90patients from Sabadell Hospital between December2002 and October 2006.Data were collected using a questionnaireand was later introduced in a specific database.Statistical analysis of data was carried out usingSPSS 15.0All patients went on a 2-year follow-up after UAE,including clinical, laboratory and diagnosticimaging examinations.Symptoms were scored as successful, improvement,unchanged or worsened. Adverse events werenoted following the Society of InterventionalRadiology’s classification. Patients were also askedabout their satisfaction.The need of an eventual hysterectomy or thepersistence of symptoms was considered to be atreatment failure.Results: The improvement of symptoms occurredin 90,7% of all the embolized women. We had toperform a second embolization in 4 cases, and ahysterectomy in 6 cases.6 months later, null vascularisation orhypovascularisation of the myoma was observed in92.8% of women. Over two years, the averagevolume reduction of the dominant myoma was76.3%.The rate of major complications was 12.7%.Patient satisfaction for the procedurewas 90.2%.Conclusions: Uterine artery embolization is aneffective treatment for women with symptomaticuterine leiomyomata, being well accepted by thepatients in the mid-term follow-up (AU)