Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes.

Efficacy of a non-hormonal treatment, BRN-01, on menopausal hot flashes: a multicenter, randomized, double-blind, placebo-controlled trial.

Background: Homeopathic medicines have a place among the non-hormonal therapies for the treatment of hot flashes during the menopause.

Objective: The objective of this study was to evaluate the efficacy of the non-hormonal treatment BRN-01 in reducing hot flashes in menopausal women.

Study Design: This was a multicenter, randomized, double-blind, placebo-controlled study carried out between June 2010 and July 2011.

Histology of genital tract and breast tissue after long-term testosterone administration in a female-to-male transsexual population.

Growing evidence indicates that androgens play a positive role in follicle proliferation and growth. Hence, many authors have assumed that androgen supplementation in women with poor ovarian reserve might improve the number of antral follicles available for ovarian stimulation. As androgen administration may become more frequently used in reproductive medicine, this study aimed at describing the histological changes observed in the genital tract and the breast of female-to-male (FTM) transsexuals.

[Juvenile Parkinson's disease and recurring prematurity. Case report].

The association of Parkinson's disease and pregnancy is very rare. Some thirty cases are found in the literature. We report the case of a pregnancy in a 30-year-old patient with juvenile Parkinson's disease.

[A pregnant woman with a SAPHO syndrome].

The association SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) and pregnancy is very rare. Only one case is indexed in the literature. We report the case of a pregnancy in a 27-year-old patient with a SAPHO syndrome and we expose its history and its obstetrical, medical and anaesthetic following.