Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?

Endometriosis is a common, estrogen-dependent, inflammatory disorder characterized by the growth of endometrial-like tissue at extrauterine locations. Its pathogenesis and mechanisms underlying its pathophysiology are poorly understood, although genetic variation is strongly implicated in these processes. Genetic studies reveal that approximately 50% of risk for endometriosis is due to genetic factors and the other 50% likely owing to environmental factors. As with other complex diseases, genetic variants in the DNA sequence increasing endometriosis risk all have small effects, unlike most single-gene disorders. It is the combinations of these variants adding together that contribute to higher risks for individual women. In addition, recent data on disease lesions demonstrate a high frequency of somatic (likely acquired) mutations, some of which are present in the eutopic endometrium and specifically in the epithelial cell compartment, raising the possibility that abnormal epithelial progenitors in the eutopic endometrium give rise to ectopic disease. Discovery in this field is occurring at a rapid pace, and further definitions of genetic (germline) and environmental (somatic) contributions to the pathogenesis and pathophysiology of this disorder are anticipated soon. These discoveries are expected to increase diagnostic, therapeutic, and preventive strategies to minimize disease and its associated morbidities.

Desde hace varias décadas, el progreso más constante se viene desarrollando en el ámbito de la oncología, tanto por lo que hace referencia al diagnóstico como al tratamiento... [editorial] / No disponible

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Changing trend in the patterns of pretreatment diagnostic assessment for patients with cervical cancer in Japan.

OBJECTIVE: Cancer staging systems should be responsive to the development of diagnostic tools. The International Federation of Gynecology and Obstetrics (FIGO) cervical cancer guidelines were modified in 2009 regarding the pretreatment assessment. We report the recent Japanese patterns of pretreatment workup for cervical cancer. METHODS: The Japanese Patterns of Care Study (PCS) working group analyzed the pretreatment diagnostic assessment data of 609 patients with cervical cancer treated with definitive radiotherapy in the two survey periods (1999-2001, 324; 2003-2005, 285) in Japan. Sixty-one of 640 institutions were selected for this survey using a stratified two-staged cluster sampling method. RESULTS: The use of optional examinations in the latest FIGO guidelines such as intravenous urography, cystoscopy, and proctoscopy was gradually decreasing. Surgical staging was rarely performed in either survey period. Computed tomography (CT) and magnetic resonance imaging (MRI) were widely used, and MRI has become increasingly prevalent even between the two survey periods. Primary lesion size and pelvic lymph node status was evaluated by CT/MRI for most patients in both surveys. CONCLUSIONS: The use of CT/MRI that is encouraged in the latest FIGO staging guidelines already replaced intravenous urography, cystoscopy, and proctoscopy in Japan. Japanese patients received the potential benefit of CT/MRI because prognostic factors such as primary lesion size and pelvic lymph node status were evaluated by these modalities. The use of cystoscopy and proctoscopy should be continuously monitored in the future PCS survey because only CT/MRI could lead to the stage migration for patients on suspicion of bladder/rectum involvement on CT/MRI.

Prognosis and reproducibility of new and existing binary grading systems for endometrial carcinoma compared to FIGO grading in hysterectomy specimens.

BACKGROUND: The current International Federation of Gynecology and Obstetrics (FIGO) grade in endometrial carcinomas requires the evaluation of histologic features with proven prognostic value but with questionable reproducibility. This study tests the prognostic power and reproducibility of a new binary grading system. STUDY DESIGN: Specimens from 254 hysterectomies were graded according to the new 3- and 2-tiered FIGO grading systems described by Alkushi et al. The selected morphologic parameters for the new grading system included the presence of predominant solid or papillary architecture pattern, severe nuclear atypia, tumor necrosis, and vascular invasion. The Cox proportional hazards and κ statistics were used for comparisons. RESULTS: On multivariate analysis, and looking at all tumor cell types, the 4 tested grading systems were independent predictors of survival, with the 3-tiered FIGO grading system being the most predictive (P = 0.005). In the subset of endometrioid tumors, the 3- and 2-tiered FIGO grading systems and the new grading system retained their statistical significance as predictors of survival (P = 0.004, P = 0.03, and P = 0.007, respectively), whereas the grading system of Alkushi et al did not (P = 0.1). In nonendometrioid tumors, the new grading system proved to be the best predictor of survival, reaching near statistical significance (P = 0.06). The new grading system had acceptable intraobserver and interobserver reproducibility assessment (κ = 0.87 and κ = 0.45, respectively). CONCLUSION: The 3-tiered FIGO grading system retained its superior prognostic power. However, available binary grading systems remain an attractive option by being highly reproducible and by eliminating the clinical ambiguity of intermediate grades of disease.

Siameses parapagus tetrabrachius dipus / Parapagus tetrabrachius dipus conjoined twins

Los gemelos siameses o gemelos unidos son gemelos monocigóticos, monoamnióticos, monocoriales, unidos entre sí por alguna región de su anatomía, como resultado de una división incompleta del disco embrionario que ocurre después del día 13 de la concepción. Presentamos el caso de unos siameses parapagus tetrabrachius dipus, diagnosticados de forma temprana mediante ecografía a la 11+5 semanas de gestación(AU)

Conjoined twins are defined as monozygotic, monochorionic and monoamniotic twins fused at any portion of their body as a result of an incomplete division of the embryonic disk, which occurs after the 13th day of conception. We present a case report describing the first trimester ultrasound diagnosis of Parapagus Tetrabrachius Dipus twins(AU)

Strategic planning is long overdue and could mitigate long-term complications that result from delayed diagnosis of primary ovarian insufficiency.

A new analytical approach could be more aggressive in revising the traditional definition to a more contemporary and functional one. Timely diagnosis with less delay results in less morbidity and ultimately greater patient satisfaction with the quality of received medical care.

Toward understanding obstetrical outcome in advanced assisted reproduction: varying sperm, oocyte, and uterine source and diagnosis.

OBJECTIVE: To evaluate the obstetrical outcome measures of birth weight (BW) and length of gestation (GA) in singleton pregnancies from in vitro fertilization (IVF), donor egg (DE), and gestational carrier (GC) cycles. DESIGN: Retrospective data analysis. SETTING: Clinics. PATIENT(S): SART data set from the years 2004-2006. INTERVENTION(S): The BW and GA of singleton pregnancies were compared in IVF, DE, and GA cycles. MAIN OUTCOME MEASURE(S): The BW and GA data were compared to evaluate the effects on these outcomes of the source of the egg, the uterus, or sperm or the primary reason given for treatment. RESULT(S): The mean BW and GA for DE cycles were 3,236 g and 37.4 weeks, respectively, which were less than those of IVF [3,265 g and 37.7 weeks]. GC BW was greater at 3,309 g with GA of 37.2 weeks. No difference was seen between donor or spouse sperm source; however, most female fertility-diagnosis cycles were associated with lower BW and GA than male factor-related cycles. CONCLUSION(S): Reduced BW and GA were observed for DE cycles versus IVF or GC cycles, suggesting that the uterine environment was more important to these outcomes than egg quality. Whereas altering the sperm source had no effect, female infertility diagnoses were associated with reductions in BW and GA.

Antral follicle count in clinical practice: building the bridge from ovarian reserve to in vitro fertilization outcome.

Antral follicle count provides a useful assessment of ovarian reserve to predict ovarian response, estimate risk for cycle cancellation, optimize stimulation protocol selection, and confidently select suitable candidates for IVF.

Pelvic pain, adnexal masses, and ultrasound.

Pelvic pain, acute or chronic, accounts for more than 10% of referrals to gynecologists. Pain accounts for more than 40% of gynecologic diagnostic laparoscopies. Predicting operative findings is critical in planning surgical interventions, as well as preoperative and postoperative medical therapy. Ultrasound is useful in preoperative evaluation and in predicting surgical findings. This section reviews the use of various ultrasound modalities in evaluating adnexal masses and associated pelvic pain. Morphologic assessment with two-dimensional (2-D) ultrasound is the foundation for adnexal evaluation. The ultrasound morphology of common ovarian and adnexal masses is reviewed. The application and reliability of Doppler assessment is also reviewed. New advances, such as three-dimensional (3-D) sonography, 3-D vascular assessment, and contrast imaging, augment diagnostic accuracy. These advances may find future application in the clinical evaluation of patients. This section reviews the application of 2-D morphology, Doppler analysis, 3-D morphology, rendering and vascular assessment, and the use of contrast agents in the ultrasound evaluation of patients with adnexal masses and pelvic pain.

Evaluación grafica del partograma en primigestas con manejo médico del trabajo de parto / Graphic evaluation of the partogram in primiparous with medical management of the labor

El objetivo de este estudio fue analizar el efecto de un manejo médico estandarizado, que incluye anestesia regional, rotura artificial de membranas y conducción ocitócica, sobre la fase activa del trabajo de parto en primigestas. Se realizó un análisis de las fichas clínicas en 137 primigestas en trabajo de parto espontáneo, que ingresaron a preparto con 3 ó 4 cm de dilatación durante el año 2003. Se observó una duración de la fase activa del trabajo de parto de aproximadamente 6 horas, con una progresión promedio de 1 cm/h, produciéndose la mayor progresión entre los 6 y 9 cms de dilatación con 1,4 cm/h. Nuestros resultados muestran que el uso de este manejo médico del trabajo de parto produciría un aumento del tiempo de la fase activa y disminución de la segunda fase, a expensas de un aumento de los partos instrumentales al comparar con otros estudios en la literatura internacional.

A data review and re-assessment of ovarian cancer serum proteomic profiling.

BACKGROUND: The early detection of ovarian cancer has the potential to dramatically reduce mortality. Recently, the use of mass spectrometry to develop profiles of patient serum proteins, combined with advanced data mining algorithms has been reported as a promising method to achieve this goal. In this report, we analyze the Ovarian Dataset 8-7-02 downloaded from the Clinical Proteomics Program Databank website, using nonparametric statistics and stepwise discriminant analysis to develop rules to diagnose patients, as well as to understand general patterns in the data that may guide future research. RESULTS: The mass spectrometry serum profiles derived from cancer and controls exhibited numerous statistical differences. For example, use of the Wilcoxon test in comparing the intensity at each of the 15,154 mass to charge (M/Z) values between the cancer and controls, resulted in the detection of 3,591 M/Z values whose intensities differed by a p-value of 10-6 or less. The region containing the M/Z values of greatest statistical difference between cancer and controls occurred at M/Z values less than 500. For example the M/Z values of 2.7921478 and 245.53704 could be used to significantly separate the cancer from control groups. Three other sets of M/Z values were developed using a training set that could distinguish between cancer and control subjects in a test set with 100% sensitivity and specificity. CONCLUSION: The ability to discriminate between cancer and control subjects based on the M/Z values of 2.7921478 and 245.53704 reveals the existence of a significant non-biologic experimental bias between these two groups. This bias may invalidate attempts to use this dataset to find patterns of reproducible diagnostic value. To minimize false discovery, results using mass spectrometry and data mining algorithms should be carefully reviewed and benchmarked with routine statistical methods.

Histerosonografía: aplicaciones clínicas: complemento del ultrasonido tridimencional / Hysterosonography: clinical applications: complement of the 3D ultrasound

Presentamos nuestra experiencia en el uso clínico de la histerosonografía en diversidad de casos tanto en estudios en pacientes sintomáticas como en evaluación de endometrios descritos anormales o no concluyentes por ultrasonidos transvaginal convencional. Describimos nuestro método y mostramos nuestras imágenes.