Background Turner syndrome (TS) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. We describe long‐term outcomes in a large cohort of ...
Girls and women with Turner syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided he...
Last. Philippe Backeljauw(Cincinnati Children's Hospital Medical Center)H-Index: 23
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Turner 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 Cons...
The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further ...
#1Emilio Quezada(OHSU: Oregon Health & Science University)H-Index: 7
#2Jodi Lapidus(OHSU: Oregon Health & Science University)H-Index: 36
Last. Michael Silberbach(OHSU: Oregon Health & Science University)H-Index: 26
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In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the tall...
Purpose of reviewWe review recent understanding of the pathophysiology, molecular biology, and management of Turner syndrome.Recent findingsSophisticated genetic techniques are able to detect mosaicism in one-third of individuals previously thought to have monosomy X. Prenatal detection using matern
Aortic dilatation and aortic dissection are increasingly recognised in patients with Turner syndrome (TS). Risk factors for aortic dissection include aortic dilatation, bicuspid aortic valves, coarctation of aorta and pregnancy. The risk of death due to aortic dissection in pregnancy in TS is 2%, which is approximately 100 times higher than the general population, as maternal mortality is extremely low. Ongoing cardiovascular monitoring is recommended, although there remain several unanswered qu...
Context: Turner syndrome (TS) carries an increased risk for vascular disease, or vasculopathy. Objective: Vasculopathy can be detected in young TS patients. Design and Patients: Vasculopathy was prospectively assessed by measuring vascular function and structure in TS patients (n = 49) and lean (L) (n = 76) and obese (O) controls (n = 52) through noninvasive techniques. Controls were drawn from previously known adolescents who were age-matched and disease-free. Data collected: Pulse wave velocit...
Liver test abnormalities are frequent in adult patients with Turner syndrome, corresponding to various pathophysiological mechanisms. Steatosis, steatofibrosis and steatohepatitis are the most frequently reported lesions, caused by metabolic disorders, which are commonly related to overweight. Marked architectural changes, including nodular regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis, found in some patients, are associated with a risk of severe liver-related compli...
Cardiovascular disease is emerging as a cardinal trait of Turner syndrome, being responsible for half of the 3-fold excess mortality. Turner syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general popula...
Background: Ectatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries. Objective: We investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype. Design: Magnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch ar...
Last. Alex J. Barker(Anschutz Medical Campus)H-Index: 45
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This International Consensus Classification and Nomenclature for the congenital bicuspid aortic valve condition recognizes 3 types of bicuspid valves: 1. The fused type (right-left cusp fusion, right-non-coronary cusp fusion and left-non-coronary cusp fusion phenotypes); 2. The 2-sinus type (latero-lateral and antero-posterior phenotypes); and 3. The partial-fusion (forme fruste) type. The presence of raphe and the symmetry of the fused type phenotypes are critical aspects to describe. The Inter...
Last. Alex J. Barker(Anschutz Medical Campus)H-Index: 45
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This International evidence-based nomenclature and classification consensus on the congenital bicuspid aortic valve and its aortopathy recognizes 3 types of bicuspid aortic valve: 1. Fused type, with 3 phenotypes: right-left cusp fusion, right-non cusp fusion and left-non cusp fusion; 2. 2-sinus type with 2 phenotypes: Latero-lateral and antero-posterior; and 3. Partial-fusion or forme fruste. This consensus recognizes 3 bicuspid-aortopathy types: 1. Ascending phenotype; root phenotype; and 3. e...
OBJECTIVE To evaluate long-term survival in patients with Turner syndrome after congenital heart surgery with a focus on left heart obstructive lesions (LHOLs). STUDY DESIGN We queried the Pediatric Cardiac Care Consortium, a US-based registry of congenital heart surgery, for patients with Turner syndrome undergoing congenital heart surgery at <21 years of age between 1982 and 2011. Outcomes were obtained from the Pediatric Cardiac Care Consortium and from national death and transplant registrie...
#2Muhammed Iraqi(BGU: Ben-Gurion University of the Negev)H-Index: 3
Last. Moshe Elkabets(BGU: Ben-Gurion University of the Negev)H-Index: 19
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The new era of cancer treatments has made immune checkpoint inhibitors (ICIs) and emerging multikinase inhibitors (TKIs) the standards of care, thus drastically improving patient prognoses. Pembrolizumab is an anti-programmed cell death-1 antibody drug, and lenvatinib is a TKI with preferential antiangiogenic activity. We present, to our knowledge, the first reported series of cases consisting of patients with metastatic non-small cell lung cancer and malignant pleural mesothelioma who were trea...
Primary renal lymphoma (PRL) is a rare form of non-Hodgkin’s lymphoma (NHL) restricted to and primarily involving one or both kidneys, with no lymph node extension. It accounts for <1% of extranodal lymphomas, and descriptions in the literature are limited. Here, we describe an unprecedented case of bilateral PRL in a 44-year-old woman with Turner syndrome and discuss both diagnostic and therapeutic issues in the light of the available literature in the field. A personalized approach to this rar...
Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic valves and aortic coarctation are frequent, affecting 20-30% and 7-18% of the TS population, respectively. The morbidity and mortality of these patients are high and related to the presence of hypertension and/or aortic dilatation (40%), inducing aor...
#1Aditi Bhargava(UCSF: University of California, San Francisco)H-Index: 32
#2Arthur P. Arnold(UCLA: University of California, Los Angeles)H-Index: 97
Last. Ragini Verma(UPenn: University of Pennsylvania)H-Index: 38
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In May 2014, the National Institutes of Health (NIH) stated its intent to "require applicants to consider sex as a biological variable (SABV) in the design and analysis of NIH-funded research involving animals and cells." Since then, proposed research plans that include animals routinely state that both sexes/genders will be used; however, in many instances, researchers and reviewers are at a loss about the issue of sex differences. Moreover, the terms sex and gender are used interchangeably by ...
#2Anne Caufriez(ULB: Université libre de Bruxelles)H-Index: 20
Abstract Multiple interactions between sleep and the ovarian axis are operative in physiological and pathological conditions. Both estradiol and progesterone contribute to the regulation of specific sleep stages, which in turn contribute to the regulation of pulsatile secretion of gonadotropins. Sleep troubles, in particular sleep deprivation, may be associated with menstrual cycle irregularity, anovulation and miscarriage. In addition, insufficient sleep favors the development of obesity and in...
