Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome.

Breast lesions in reduction mammaplasty specimens: a histopathological pattern in 534 patients.

Background: The prevalence of breast lesions (benign, precancerous and cancer lesions) in reduction mammaplasty (RM) specimens has rarely been reported in Europe and never in the Swiss population.

Methods: Personal and histopathological data from 534 female patients who underwent RM were reviewed.

Results: Benign and/or malignant lesions were detected in 76.

Importance and determinants of Gleason score undergrading on biopsy sample of prostate cancer in a population-based study.

Background: In this population-based study, we investigated the degree of concordance between Gleason scores obtained from prostate biopsies and those obtained from prostatectomy specimens, as well as the determinants of biopsy understaging.

Methods: We considered for this study all 371 prostate cancer patients recorded at the Geneva Cancer Registry diagnosed from 2004 to 2006 who underwent a radical prostatectomy. We used the kappa statistic to evaluate the Gleason score concordance from biopsy and prostatectomy specimens.

A pelvic mass on ultrasonography and high human chorionic gonadotropin level: not always an ectopic pregnancy.

A 24-year-old patient with 7-week amenorrhoea consulted for vaginal bleeding without abdominal pain. Ultrasonography revealed a 7 × 4 cm solid right pelvic mass. There was no visible intrauterine gestational sac.