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  1. Article ; Online: Aortic coarctation and coronary artery disease: the XY factor.

    Bondy, Carolyn A

    Circulation

    2012  Volume 126, Issue 1, Page(s) 5–7

    MeSH term(s) Aortic Coarctation/diagnosis ; Aortic Coarctation/epidemiology ; Coronary Artery Disease/diagnosis ; Coronary Artery Disease/epidemiology ; Female ; Humans ; Male
    Language English
    Publishing date 2012-07-03
    Publishing country United States
    Document type Comment ; Editorial ; Research Support, N.I.H., Intramural
    ZDB-ID 80099-5
    ISSN 1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
    ISSN (online) 1524-4539
    ISSN 0009-7322 ; 0069-4193 ; 0065-8499
    DOI 10.1161/CIRCULATIONAHA.112.116293
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Hypoplastic left heart syndrome.

    Bondy, Carolyn A

    The New England journal of medicine

    2010  Volume 362, Issue 21, Page(s) 2026–2028

    MeSH term(s) Cardiac Surgical Procedures/methods ; Heart Bypass, Right/methods ; Heart Ventricles/abnormalities ; Heart Ventricles/surgery ; Humans ; Hypoplastic Left Heart Syndrome/surgery ; Infant, Newborn ; Pulmonary Artery/surgery
    Language English
    Publishing date 2010-05-27
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMe1002923
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  3. Article ; Online: Turner syndrome 2008.

    Bondy, Carolyn A

    Hormone research

    2009  Volume 71 Suppl 1, Page(s) 52–56

    Abstract: Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with ... ...

    Abstract Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diagnoses of mosaicism for 45,X associated with normal ultrasounds have a high survival rate and may have no or only mild features of TS.
    Current guidelines: At present, appropriate treatment for girls with TS may include growth-promoting therapy and pubertal induction with the dual aims of optimizing adult height and facilitating psychosocial adjustment. Current recommendations advocate mimicking normal physiology as much as possible, with use of microdose estradiol to initiate puberty. Healthcare providers should play a role in helping girls psychosocially adapt to ovarian failure. We now recognize there is an unacceptably high rate of premature mortality in adults with TS, mainly because of complications from congenital heart disease. Cardiac magnetic resonance imaging is recommended to screen for individuals at high risk for serious complications.
    MeSH term(s) Algorithms ; Female ; Growth Disorders/complications ; Growth Disorders/therapy ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/mortality ; Humans ; Prenatal Diagnosis/methods ; Puberty/physiology ; Turner Syndrome/complications ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/therapy
    Language English
    Publishing date 2009-01
    Publishing country Switzerland
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 124442-5
    ISSN 1423-0046 ; 0301-0163
    ISSN (online) 1423-0046
    ISSN 0301-0163
    DOI 10.1159/000178039
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    Zs.A 414: Show issues Location:
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  4. Article ; Online: Congenital cardiovascular disease in Turner syndrome.

    Bondy, Carolyn A

    Congenital heart disease

    2008  Volume 3, Issue 1, Page(s) 2–15

    Abstract: Turner syndrome (TS), or monosomy X, occurs in approximately 1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects approximately 50% of ... ...

    Abstract Turner syndrome (TS), or monosomy X, occurs in approximately 1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects approximately 50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed.
    MeSH term(s) Adolescent ; Adult ; Aneurysm, Dissecting/diagnosis ; Aneurysm, Dissecting/genetics ; Aneurysm, Dissecting/physiopathology ; Aneurysm, Dissecting/therapy ; Aortic Aneurysm/diagnosis ; Aortic Aneurysm/genetics ; Aortic Aneurysm/physiopathology ; Aortic Aneurysm/therapy ; Aortic Rupture/diagnosis ; Aortic Rupture/genetics ; Aortic Rupture/physiopathology ; Aortic Rupture/therapy ; Autonomic Nervous System/physiopathology ; Body Size/genetics ; Coronary Artery Disease/diagnosis ; Coronary Artery Disease/genetics ; Coronary Artery Disease/therapy ; Dilatation, Pathologic ; Female ; Fetal Development/genetics ; Genetic Predisposition to Disease ; Genomic Imprinting ; Growth Hormone/adverse effects ; Heart Conduction System/physiopathology ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/physiopathology ; Heart Defects, Congenital/therapy ; Humans ; Long-Term Care ; Middle Aged ; Practice Guidelines as Topic ; Pregnancy ; Risk Factors ; Turner Syndrome/complications ; Turner Syndrome/genetics ; Turner Syndrome/pathology ; Turner Syndrome/physiopathology ; Turner Syndrome/therapy ; Vascular Malformations/diagnosis ; Vascular Malformations/genetics ; Vascular Malformations/physiopathology ; Vascular Malformations/therapy
    Chemical Substances Growth Hormone (9002-72-6)
    Language English
    Publishing date 2008-01
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 2274321-2
    ISSN 1747-0803 ; 1747-079X
    ISSN (online) 1747-0803
    ISSN 1747-079X
    DOI 10.1111/j.1747-0803.2007.00163.x
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  5. Article ; Online: Aortic dissection in Turner syndrome.

    Bondy, Carolyn A

    Current opinion in cardiology

    2008  Volume 23, Issue 6, Page(s) 519–526

    Abstract: Purpose of review: Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner syndrome is the most common established cause of aortic dissection in ... ...

    Abstract Purpose of review: Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner syndrome is the most common established cause of aortic dissection in young women, but has received little attention outside pediatric literature. This review focuses on emerging knowledge of the characteristics of aortic disease in Turner syndrome in comparison with Marfan-like syndromes and isolated aortic valve disease.
    Recent findings: The incidence of aortic dissection is significantly increased in individuals with Turner syndrome at all ages, highest during young adult years and in pregnancy. Pediatric patients with dissection have known congenital cardiovascular defects (CHD), but adults often have aortic valve and arch abnormalities detected only by screening cardiac magnetic resonance. Thoracic aortic dilation in Turner syndrome must be evaluated in relation to body surface area. Dilation is most prominent at the ascending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent (20-30%) in children and adults, and does not seem to be rapidly progressive. Cardiovascular anomalies and risk for aortic dissection in Turner syndrome are strongly linked to a history of fetal lymphedema, evidenced by the presence of neck webbing and shield chest.
    Summary: Risk for acute aortic dissection is increased by more than 100-fold in young and middle-aged women with Turner syndrome. Monitoring frequency and treatment modalities are decided on an individual basis until more information on outcomes becomes available.
    MeSH term(s) Acute Disease ; Adult ; Age Factors ; Aortic Dissection/etiology ; Aortic Dissection/pathology ; Aortic Aneurysm, Thoracic/etiology ; Aortic Aneurysm, Thoracic/pathology ; Aortic Coarctation/complications ; Chromosomes, Human, X ; Female ; Heart Defects, Congenital/complications ; Humans ; Incidence ; Mitral Valve/pathology ; Pregnancy ; Pregnancy Complications, Cardiovascular/etiology ; Risk Assessment ; Turner Syndrome/complications ; Turner Syndrome/genetics ; Turner Syndrome/pathology
    Language English
    Publishing date 2008-10-10
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 645186-x
    ISSN 1531-7080 ; 0268-4705
    ISSN (online) 1531-7080
    ISSN 0268-4705
    DOI 10.1097/hco.0b013e3283129b89
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    Zs.A 2556: Show issues Location:
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  6. Article ; Online: Endogenous sex hormones and type 2 diabetes risk.

    Bondy, Carolyn A

    JAMA

    2006  Volume 296, Issue 2, Page(s) 169; author reply 169–70

    MeSH term(s) Adiposity/physiology ; Diabetes Mellitus, Type 2/metabolism ; Estradiol/metabolism ; Female ; Humans ; Insulin/metabolism ; Male ; Testosterone/metabolism
    Chemical Substances Insulin ; Testosterone (3XMK78S47O) ; Estradiol (4TI98Z838E)
    Language English
    Publishing date 2006-07-12
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 2958-0
    ISSN 1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
    ISSN (online) 1538-3598
    ISSN 0254-9077 ; 0002-9955 ; 0098-7484
    DOI 10.1001/jama.296.2.169-a
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  7. Article: Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

    Bondy, Carolyn A

    The Journal of clinical endocrinology and metabolism

    2007  Volume 92, Issue 1, Page(s) 10–25

    Abstract: Objectives: The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS).: Participants: The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts ... ...

    Abstract Objectives: The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS).
    Participants: The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies.
    Evidence: The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking.
    Consensus: The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus.
    Conclusions: We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.
    MeSH term(s) Adult ; Bone and Bones/metabolism ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/etiology ; Child ; Cognition ; Estrogen Replacement Therapy ; Female ; Fertility ; Humans ; Infant, Newborn ; Liver Diseases/etiology ; Neonatal Screening ; Prenatal Diagnosis ; Puberty ; Turner Syndrome/complications ; Turner Syndrome/diagnosis ; Turner Syndrome/psychology ; Turner Syndrome/therapy
    Language English
    Publishing date 2007-01
    Publishing country United States
    Document type Journal Article ; Practice Guideline ; Research Support, N.I.H., Extramural
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2006-1374
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  8. Article: Turner's syndrome and X chromosome-based differences in disease susceptibility.

    Bondy, Carolyn A

    Gender medicine. official journal of the Partnership for Gender-Specific Medicine at Columbia University

    2006  Volume 3, Issue 1, Page(s) 18–30

    MeSH term(s) Chromosomes, Human, X/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Variation ; Heart Defects, Congenital/etiology ; Humans ; Male ; Phenotype ; Risk Factors ; Sex Factors ; Turner Syndrome/complications ; Turner Syndrome/genetics ; Turner Syndrome/psychology
    Language English
    Publishing date 2006-04-26
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2171408-3
    ISSN 1878-7398 ; 1550-8579
    ISSN (online) 1878-7398
    ISSN 1550-8579
    DOI 10.1016/s1550-8579(06)80191-9
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  9. Article ; Online: Turner syndrome: update on current therapies.

    Bondy, Carolyn

    Expert review of endocrinology & metabolism

    2014  Volume 2, Issue 3, Page(s) 359–366

    Abstract: New treatments for girls and women with Turner syndrome (monosomy X) have dramatically improved their quality of life and health. Young girls are treated with growth hormone to enhance adult height, and with estrogen to induce and maintain feminization, ... ...

    Abstract New treatments for girls and women with Turner syndrome (monosomy X) have dramatically improved their quality of life and health. Young girls are treated with growth hormone to enhance adult height, and with estrogen to induce and maintain feminization, and prevent osteoporosis. Vigilant screening for otitis, thyroid disease, hypertension, dyslipidemia and diabetes allows for early and effective medical treatment of these common problems. Comprehensive cardiovascular evaluation and regular monitoring of aortic diameter are essential to identify individuals at risk for dissection or rupture. Insights derived from the study of metabolic risk factors in women with Turner syndrome may illuminate gender differences in atherosclerotic heart disease.
    Language English
    Publishing date 2014-01-23
    Publishing country England
    Document type Journal Article
    ISSN 1744-8417
    ISSN (online) 1744-8417
    DOI 10.1586/17446651.2.3.359
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  10. Article: New issues in the diagnosis and management of Turner syndrome.

    Bondy, Carolyn A

    Reviews in endocrine & metabolic disorders

    2005  Volume 6, Issue 4, Page(s) 269–280

    Abstract: This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling ...

    Abstract This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling prospective parents on the implications of a TS karyotype during prenatal screening. New approaches to cardiac evaluation, including imaging with MR and ECG analysis-were suggested to strengthen our ability to detect and prevent potentially life-threatening cardiac complications. The new emphasis on reproductive potential and concerns about the adequacy and safety of current HRT regimens certainly require further studies and adjustment of treatment strategies in light of new priorities and safety concerns. In the same vein, prospective studies are required to assess the outcome and safety of assisted pregnancy in TS, which, despite the warning ofa potential catastrophic increase in maternal morbidity is going to become a much more common occurrence in the near future.
    MeSH term(s) Adolescent ; Adult ; Electrocardiography ; Estrogen Replacement Therapy ; False Positive Reactions ; Female ; Heart Defects, Congenital/diagnosis ; Human Growth Hormone/therapeutic use ; Humans ; Osteoporosis/etiology ; Pregnancy ; Pregnancy Complications ; Prenatal Diagnosis ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/therapy
    Chemical Substances Human Growth Hormone (12629-01-5)
    Language English
    Publishing date 2005-12
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 2185718-0
    ISSN 1389-9155
    ISSN 1389-9155
    DOI 10.1007/s11154-005-6185-z
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