Turner Syndrome

Turner syndrome (TS) summarises a heterogeneous group of patients with different chromosomal pathologies, including 45,X0 monosomy, mosaicism and structural abnormalities of the X chromosome. Monosomies usually lead to very early premature ovarian insufficiency, whereas mosaicism and structural abnormalities may preserve fertility. The genotype should therefore be taken into account in the indication for and implementation of a fertility preservation measure. The increased pregnancy risks in Turner syndrome must also be considered. Fertility preservation measures include freezing of oocytes and possibly ovarian tissue

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

syndrome affects 25–50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting

Hemodynamics: An Introduction

International audienceThe cardiovascular transport circuit is involved in both mass and heat transfer. It carries blood cells as well as oxygen and nutrients to cells of the body’s organs through the perfusing systemic arterial bed and wastes produced by working cells to their final destinations through draining veins. Blood flows throughout the body in the vasculature due to a pressure difference between the ventricular outlet and atrial inlet. Blood is propelled in the systemic and pulmonary circulation by the synchronized action of the left and right apposed cardiac pumps, respectively. Hemodynamics is related to the flow features in the heart and blood vessels, in normal and pathological conditions, in particular the pressure–flow relations and transport of substances by blood to given target organs. It can be required in therapy planning and optimization