Background-The risk for aortic dissection is increased among relatively young women with Turner syndrome (TS). It is unknown whether aortic dilatation precedes acute aortic dissection in TS and, if so, what specific diameter predicts impending deterioration. Methods and Results-Study subjects included 166 adult volunteers with TS (average age, 36.2 years) who were not selected for cardiovascular disease and 26 healthy female control subjects. Ascending and descending aortic diameters were measured by magnetic resonance imaging at the right pulmonary artery. TS women were on average 20 cm shorter, yet average aortic diameters were identical in the 2 groups. Ascending aortic diameters normalized to body surface area (aortic size index) were significantly greater in TS, and Ϸ32% of TS women had values greater than the 95th percentile of 2.0 cm/m 2 . Ascending diameter/descending diameter ratios also were significantly greater in the TS group. During Ϸ3 years of follow-up, aortic dissections occurred in 3 women with TS, for an annualized rate of 618 cases/100 000 woman-years. These 3 subjects had ascending aortic diameters of 3.7 to 4.8 cm and aortic size indices Ͼ2.5 cm/m 2 . Conclusions-The risk for aortic dissection is greatly increased in young women with TS. Because of their small stature, ascending aortic diameters of Ͻ5 cm may represent significant dilatation; thus, the use of aortic size index is preferred. Individuals with a dilated ascending aorta defined as aortic size index Ͼ2.0 cm/m 2 require close cardiovascular surveillance. Those with aortic size index Ն2.5 cm/m 2 are at highest risk for aortic dissection.
Girls and women with TS need focused screening of the aortic valve and root to identify the many asymptomatic individuals with abnormal valvular structure and/or aortic root dilation.
Women with PAH may spend most of their time being sedentary, and lower self-reported energy levels are associated with less daily activity. Interventions to improve symptoms such as fatigue may also increase physical activity levels in PAH.
Fatigue, a commonly reported symptom, is defined as an overwhelming, debilitating, and sustained sense of exhaustion that decreases the ability to function and carry out daily activities. To date, cancer researchers have been in the forefront in investigating the possible biological mechanisms of fatigue, identifying inflammation, dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, and activation of the autonomic nervous system. The purpose of this systematic review is to describe fatigue and what is known about the biological mechanisms described in cancer in five chronic, noninfectious illnesses: heart failure, multiple sclerosis, chronic kidney disease, rheumatoid arthritis, and chronic obstructive pulmonary disease. We searched PubMed and EMBASE using fatigue as a major Medical subject headings (MeSH) heading with each individual disease added as a search term followed by each biological mechanism. We included only primary research articles published in English between 1996 and 2016 describing studies conducted in adult humans. We identified 26 relevant articles. While there is some evidence that the biological mechanisms causing fatigue in cancer are also associated with fatigue in other chronic illnesses, more research is needed to explore inflammation, the HPA axis, and the autonomic nervous system, and other mechanisms in relation to fatigue in a variety of chronic illnesses.
Certain behavioral and metabolic aspects of Turner syndrome (TS) are attributed to X-chromosome genomic imprinting. To investigate the possible contribution of imprinting to the physical features of the TS phenotype in live-born individuals, we genotyped the single normal X-chromosome in subjects with TS who all underwent a comprehensive evaluation as part of the NIH genotype-phenotype protocol. All had physical examinations, auxological measurements and imaging of the renal and cardiovascular systems. Absolute height and height as a percent of predicted height was the same in X(M) (n = 56) and X(P) (n = 23) subjects that had reached final height and were not growth hormone treated. Interestingly, adult height was significantly correlated with maternal but not paternal heights in both X(M) and X(P) groups. Neck webbing was found in 35% of the X(M) (n = 133) and 22% of the X(P) (n = 50) groups (P = 0.11). Renal anomalies were present in 24% of X(M) and 25% of X(P) groups (P = 0.9). Bicuspid aortic valve was found in 26% of X(M) and 24% of X(P) groups (P = 0.83), and any cardiovascular anomaly (abnormal aortic valve, aortic coarctation, elongated transverse aortic arch, anomalous pulmonary venous connection, left superior vena cava) affected 55% of X(M) and 52% of X(P) groups. Thus, we found no evidence for X-linked genomic imprinting effects on stature or lymphatic, renal or cardiovascular development in TS. Our sample size was sufficient to exclude such effects within 95% confidence limits. We did demonstrate a selective maternal effect on final stature that was independent of X-chromosome origin, suggesting potential autosomal imprinting effects on growth revealed by X monosomy.
This study revealed specific concerns related to the symptom experience of PAH patients and how they redefined their lives to accommodate these symptoms. These findings provide a basis for larger, quantitative studies to examine the extent of symptom impact as well as a framework for development of self management interventions to improve the symptom experience and QOL.
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