Turner syndrome (TS), most frequently caused by X-monosomy (45,X), is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV). There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM) organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,X^PO) or maternal (39,X^MO)) and 40,XX controls. Aortic valve morphology was normal (tricuspid) in all of the 39,X^PO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid) in 15% of 39,X^MO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,X^PO and 39,X^MO mice examined, but smooth muscle actin was decreased in 39,X^MO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy. Full article

Prolonged oligohydramnios following extreme preterm prelabour rupture of membranes (EPPROM) is traditionally associated with a high morbidity and mortality to both the mother and the baby. The clinical maternal evaluation and fetal ultrasound assessment may provide important prognostic information for the clinicians and should be taken into account when counselling the patients so as to provide them with enough information to make decision of continuing or interrupting the pregnancy. Current financial constraints on the National Healthcare Service (NHS) resources make it imperative for clinical decision-makers and budgetary planners to make the right decision of continuing or terminating a second trimester pre-viability amniorrhexis for desperate parents. To assess the economic consequences following EPPROM, the risk of infection to both baby and mother, psychological impact on the parents and associated complications and further disability after delivery on this fragile group of patients to the NHS resources. We review the clinical course, outcome, and the challenges to parents and health care professionals on three pregnancies complicated by EPPROM, occurring before 24 weeks’ gestation with a membrane rupture to delivery interval (latent period) of 14 days or more. The anticipated birth of an extremely premature infant poses many challenges for parents and health care professionals. As parents are faced with difficult decisions that can have a long-term impact on the infant, family and country’s resources, it is critical to provide the type of information and support that is needed by them. Taking all these into consideration with the period of ventilation and respiratory assistance in Neonatal Intensive Care Unit (NICU) is essential to provide maximum chances for survival, minimizing the risk for long term sequelae of the neonate and provides the parents enough time to decide on making the right decision with the associated guidance of the healthcare provider. Full article