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Article ; Online: The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

Noonan, Jacqueline A / Kappelgaard, Anne-Marie

2015 Volume 83, Issue 3, Page(s) 157–166

Abstract: Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies ... in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean ... common in Noonan syndrome patients at the start of therapy. BMI is not affected by GH treatment ...

Abstract	Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.26 SDS. Among studies reporting adult or near-adult height, GH therapy over 5-7 years resulted in adult height SDS from -0.6 to -2.1, with up to 60% of subjects in some studies achieving adult height within 1 SDS of mid-parental height. GH treatment results in an acceleration of bone age, likely reflecting normalization from the retarded bone age common in Noonan syndrome patients at the start of therapy. BMI is not affected by GH treatment, but favorable changes in fat mass and body composition are achievable. Longer-term studies and observational studies suggest a waning of the effect of GH therapy over time, as is seen in other GH-treated conditions, and early initiation of therapy and prepubertal status are important predictors of response. GH treatment does not appear to be associated with adverse cardiac or metabolic effects, and data on malignancy during GH treatment give no cause for concern, although they are limited.
MeSH term(s)	Adiposity/drug effects ; Adolescent ; Adult ; Body Height/drug effects ; Child ; Child, Preschool ; Female ; Human Growth Hormone/adverse effects ; Human Growth Hormone/therapeutic use ; Humans ; Infant ; Male ; Noonan Syndrome/drug therapy ; Noonan Syndrome/physiopathology
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2015
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000369012
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Article ; Online: Cardiac findings in Noonan syndrome on long-term follow-up.

Colquitt, John L / Noonan, Jacqueline A

Congenital heart disease

2014 Volume 9, Issue 2, Page(s) 144–150

Abstract: Objective: Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac ...

Abstract	Objective: Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac abnormalities, including, most notably, pulmonary stenosis (PS) and hypertrophic cardiomyopathy (HCM). Little is known about the natural history of heart disease in this unique subset of patients. We sought to contribute information on the natural history of NS by looking at how the cardiac disease progresses with time. Design: This is a retrospective review of the medical records of patients with NS seen at our institution between 1963 and 2011. Results: Records were available for 113 patients. Average length of follow-up was 14.16 years (2 months to 44 years, median 12.5 years). Sixty-six percent (75/113) of our patients had PS; within this subset, 57% (43) were classified as mild, 9% (7) moderate, and 33% (25) severe. None of the cases of mild PS worsened with time. All of the severe cases had an intervention, as did some moderate cases. Fourteen percent (16/113) of our patients had HCM; 56% (9/16) were mild, diagnosed at an average age of 3.8 years. Seven of these were stable with time, while one did progress. Forty-four percent (7/16) of cases were classified as severe, diagnosed at an average age of 4.2 months, and all were managed medically, surgically, or both. Our cohort had seven deaths (ages 6 months and 6, 10, 20, 40, 49, and 50 years). Conclusion: Mild PS in patients with NS is nonprogressive. Severe, and in some cases moderate, PS will invariably require a therapeutic intervention. It is uncommon for HCM to progress or have new onset beyond early childhood. Prognosis of heart disease in NS is influenced most by the findings on presentation.
MeSH term(s)	Adult ; Age Factors ; Cardiomyopathy, Hypertrophic, Familial/diagnosis ; Cardiomyopathy, Hypertrophic, Familial/genetics ; Cardiomyopathy, Hypertrophic, Familial/mortality ; Cardiomyopathy, Hypertrophic, Familial/therapy ; Child ; Child, Preschool ; Disease Progression ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Kaplan-Meier Estimate ; Kentucky ; Male ; Middle Aged ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/mortality ; Noonan Syndrome/therapy ; Phenotype ; Prognosis ; Pulmonary Valve Stenosis/diagnosis ; Pulmonary Valve Stenosis/genetics ; Pulmonary Valve Stenosis/mortality ; Pulmonary Valve Stenosis/therapy ; Retrospective Studies ; Risk Factors ; Severity of Illness Index ; Time Factors ; Young Adult
Language	English
Publishing date	2014-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	2274321-2
ISSN	1747-0803 ; 1747-079X
ISSN (online)	1747-0803
ISSN	1747-079X
DOI	10.1111/chd.12102
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Article: Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan, Jacqueline A

Reviews in endocrine & metabolic disorders

2006 Volume 7, Issue 4, Page(s) 251–255

Abstract: Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies ... short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33 ... with Noonan syndrome. The phenotype noted in Noonan syndrome is also found in a number of other syndromes which include ...

Abstract	Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33:548-555, 1994). Recently, a mutation in the PTPN11 gene (Tartaglia, Mehler, Goldberg, Zampino, Brunner, Kremer et al., Nat Genet, 29:465-468, 2001) was found to be present in about 50% of individuals with Noonan syndrome. The phenotype noted in Noonan syndrome is also found in a number of other syndromes which include LEOPARD (Gorlin, Anderson, Blaw, Am J Dis Child, 17:652-662, 1969), Cardio-facio-cutaneous syndrome (Reynolds, Neri, Hermann, Blumberg, Coldwell, Miles et al., Am J Med Genet, 28:413-427, 1986) and Costello syndrome (Hennekam, Am J Med Genet, 117C(1):42-48, 2003). All three of these syndromes share similar cardiac defects and all have postnatal short stature. Very recently, HRAS mutations (Aoki, Niihori, Kawame, Kurosawa, Ohashi, Tanaka et al., Nat Genet, 37:1038-1040, 2005) have been found in the Costello syndrome and germline mutations in KRAS and BRAF genes (Rodriguez-Viciana, Tetsu, Tidyman, Estep, Conger, Santa Cruz et al., Nat Genet, 2006; Niihori, Aoki, Narumi, Neri, Cave, Verloes et al., Nat Genet, 38:294-296, 2006) in the Cardio-facio-cutaneous syndrome. Phenotypic overlap between these genetic disorders can now be explained since each is caused by germline mutations that are major components of the RAS-MAPK pathway. This pathway plays an important role in growth factor and cytokine signaling as well as cancer pathogenesis.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Body Size/genetics ; Body Size/physiology ; Germ-Line Mutation ; Humans ; LEOPARD Syndrome/genetics ; LEOPARD Syndrome/physiopathology ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Puberty/genetics ; Puberty/physiology
Language	English
Publishing date	2006-12
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	2185718-0
ISSN	1389-9155
ISSN	1389-9155
DOI	10.1007/s11154-006-9021-1
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Article ; Online: Effectiveness of nurse-led interventions versus usual care to manage hypertension and lifestyle behaviour: a systematic review and meta-analysis.

Bulto, Lemma N / Roseleur, Jacqueline / Noonan, Sara / Pinero de Plaza, Maria Alejandra / Champion, Stephanie / Dafny, Hila Ariela / Pearson, Vincent / Nesbitt, Katie / Gebremichael, Lemlem G / Beleigoli, Alline / Gulyani, Aarti / Schultz, Timothy / Hines, Sonia / Clark, Robyn A / Hendriks, Jeroen M

European journal of cardiovascular nursing

2023 Volume 23, Issue 1, Page(s) 21–32

Abstract: Aims: This review aimed to investigate the effectiveness of nurse-led interventions vs. usual care on hypertension management, lifestyle behaviour, and patients' knowledge of hypertension and associated risk factors.: Methods: A systematic review ... ...

Abstract	Aims: This review aimed to investigate the effectiveness of nurse-led interventions vs. usual care on hypertension management, lifestyle behaviour, and patients' knowledge of hypertension and associated risk factors. Methods: A systematic review with meta-analysis was conducted following Joanna Briggs Institute (JBI) guidelines. MEDLINE (Ovid), EmCare (Ovid), CINAHL (EBSCO), Cochrane library, and ProQuest (Ovid) were searched from inception to 15 February 2022. Randomized controlled trials (RCTs) examining the effect of nurse-led interventions on hypertension management were identified. Title and abstract, full text screening, assessment of methodological quality, and data extraction were conducted by two independent reviewers using JBI tools. A statistical meta-analysis was conducted using STATA version 17.0. Results: A total of 37 RCTs and 9731 participants were included. The overall pooled data demonstrated that nurse-led interventions may reduce systolic blood pressure (mean difference -4.66; 95% CI -6.69, -2.64; I2 = 83.32; 31 RCTs; low certainty evidence) and diastolic blood pressure (mean difference -1.91; 95% CI -3.06, -0.76; I2 = 79.35; 29 RCTs; low certainty evidence) compared with usual care. The duration of interventions contributed to the magnitude of blood pressure reduction. Nurse-led interventions had a positive impact on lifestyle behaviour and effectively modified diet and physical activity, but the effect on smoking and alcohol consumption was inconsistent. Conclusion: This review revealed the beneficial effects of nurse-led interventions in hypertension management compared with usual care. Integration of nurse-led interventions in routine hypertension treatment and prevention services could play an important role in alleviating the rising global burden of hypertension. Registration: PROSPERO: CRD42021274900.
MeSH term(s)	Humans ; Nurse's Role ; Hypertension/therapy ; Life Style ; Risk Factors ; Blood Pressure
Language	English
Publishing date	2023-04-03
Publishing country	England
Document type	Meta-Analysis ; Systematic Review ; Journal Article
ZDB-ID	2151245-0
ISSN	1873-1953 ; 1474-5151
ISSN (online)	1873-1953
ISSN	1474-5151
DOI	10.1093/eurjcn/zvad040
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Article: A history of pediatric specialties: the development of pediatric cardiology.

Noonan, Jacqueline A

Pediatric research

2004 Volume 56, Issue 2, Page(s) 298–306

Abstract: Pediatric cardiology, as a discipline, arose from early descriptive studies of congenital cardiac defects. The development of the stethoscope allowed some clinical diagnoses to be made during life. Cardiology as a medical specialty was limited, mainly, ... ...

Abstract	Pediatric cardiology, as a discipline, arose from early descriptive studies of congenital cardiac defects. The development of the stethoscope allowed some clinical diagnoses to be made during life. Cardiology as a medical specialty was limited, mainly, to internists. When Robert Gross ligated a patent ductus in 1938, pediatric cardiology, as a discipline, was born. Physiologic studies, angiography, and the development of extracorporeal circulation allowed congenital cardiac lesions previously considered a curiosity to be diagnosed and treated successfully. The few pediatricians who were interested in cardiology taught themselves, and soon pediatric cardiology training programs developed. By 1961, pediatric cardiology became the first subspecialty board in pediatrics. The past 60 y has brought enormous progress. Cardiac ultrasound, color-flow Doppler, and magnetic resonance imaging have made diagnostic cardiac catheterization almost unnecessary. Instead, interventional cardiac catheterization rapidly developed and is already able to replace surgery in the treatment of a number of cardiac defects. The first 50 y of cardiology has been focused on patient care, education, and clinical research, but the last 10 y has added exciting, basic research discoveries, which are elucidating the cause of cardiac defects with hope for prevention in the future. As a discipline, pediatric cardiology has always required a team-pathologists, physiologists, cardiologists, surgeons, intensivists, interventionists, and anesthesiologists-all playing an important role in the treatment of children with cardiac problems. Today the geneticists, molecular biologists, and other basic scientists are joining the team to ensure an exciting future for pediatric cardiology and the children yet to be born.
MeSH term(s)	Cardiology/education ; Cardiology/history ; Heart/physiology ; Heart Defects, Congenital/pathology ; Heart Defects, Congenital/surgery ; Heart Diseases/diagnosis ; Heart Diseases/epidemiology ; Heart Diseases/genetics ; Heart Diseases/physiopathology ; History, 20th Century ; History, 21st Century ; Humans ; Pediatrics/education ; Pediatrics/history ; Societies, Medical
Language	English
Publishing date	2004-08
Publishing country	United States
Document type	Historical Article ; Journal Article ; Review
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1203/01.PDR.0000132662.73362.96
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Article: The Efficacy and Safety of Growth Hormone Therapy in Children with Noonan Syndrome: A Review of the Evidence

Noonan, Jacqueline A. / Kappelgaard, Anne-Marie

Hormone Research in Paediatrics

2014 Volume 83, Issue 3, Page(s) 157–166

Institution	Kentucky Children's Heart Center, Division of Pediatric Cardiology, University of Kentucky, Lexington, Ky., USA Novo Nordisk International Operations AG, Zurich, Switzerland
Abstract	Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.26 SDS. Among studies reporting adult or near-adult height, GH therapy over 5-7 years resulted in adult height SDS from -0.6 to -2.1, with up to 60% of subjects in some studies achieving adult height within 1 SDS of mid-parental height. GH treatment results in an acceleration of bone age, likely reflecting normalization from the retarded bone age common in Noonan syndrome patients at the start of therapy. BMI is not affected by GH treatment, but favorable changes in fat mass and body composition are achievable. Longer-term studies and observational studies suggest a waning of the effect of GH therapy over time, as is seen in other GH-treated conditions, and early initiation of therapy and prepubertal status are important predictors of response. GH treatment does not appear to be associated with adverse cardiac or metabolic effects, and data on malignancy during GH treatment give no cause for concern, although they are limited.
Keywords	Growth hormone ; Growth ; Body composition ; Noonan syndrome ; Body height
Language	English
Publishing date	2014-12-10
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Mini Review
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000369012
Database	Karger publisher's database

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Article ; Online: Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.

Sweeney, Robert T / Davis, Gregory J / Noonan, Jacqueline A

Congenital heart disease

2008 Volume 3, Issue 6, Page(s) 443–448

Abstract: This is a report of a child who died at 20 months from what was clinically thought to be cardiomyopathy of unknown etiology. Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome ... ...

Abstract	This is a report of a child who died at 20 months from what was clinically thought to be cardiomyopathy of unknown etiology. Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia. Other associated laboratory findings can include hypocholesterolemia, relative monocytosis, low prealbumin, low plasma carnitine, and lactic acidosis. The classic echocardiogram finding is left ventricular noncompaction, although not always present. Until recently, the most reliable biochemical finding has been 3-methylglutaconic aciduria. However, quantitative analysis must be specifically requested for results to be reliable. Recently, a confirmatory tetralinoleoyl cardiolipin high-pressure liquid chromotography-tandem mass spectrometry blood test has become available. Genetic testing is also confirmatory and details the underlying mutation. Diagnosis is often missed or delayed and early diagnosis improves survival. The purpose of this case report is to encourage physicians to include Barth syndrome in the differential for cardiomyopathy of uncertain etiology in males, especially in the presence of growth delays, hypotonia, neutropenia, and/or family history of pediatric male death of unknown etiology.
MeSH term(s)	Autopsy ; Cardiomyopathies/etiology ; Cardiomyopathies/genetics ; Cardiomyopathies/pathology ; Diagnosis, Differential ; Fatal Outcome ; Genetic Diseases, X-Linked/complications ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Genetic Testing ; Growth Disorders/etiology ; Humans ; Infant ; Male ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Muscle Hypotonia/etiology ; Neutropenia/etiology ; Syndrome
Language	English
Publishing date	2008-11
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2274321-2
ISSN	1747-0803 ; 1747-079X
ISSN (online)	1747-0803
ISSN	1747-079X
DOI	10.1111/j.1747-0803.2008.00226.x
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Article: Life-long follow-up in congenitally corrected transposition.

Shih, Wei-Jen / Noonan, Jacqueline A / Mazzoleni, Alberto

Cardiology in the young

2007 Volume 17, Issue 6, Page(s) 681–684

Abstract: A male patient with congenitally corrected transposition, with no associated cardiac malformations, was diagnosed in childhood and followed until his death at age 28. He underwent two cardiac gated single photon emission computed tomographies over a two ... ...

Abstract	A male patient with congenitally corrected transposition, with no associated cardiac malformations, was diagnosed in childhood and followed until his death at age 28. He underwent two cardiac gated single photon emission computed tomographies over a two year period, which demonstrated progression of ischaemia and reduction of systolic function. The findings suggest that, when the systemic ventricle is perfused by the morphologically right coronary artery, there may be inadequate perfusion to supply any subsequent extensive hypertrophy.
MeSH term(s)	Cardiac Catheterization ; Child ; Diagnosis, Differential ; Echocardiography ; Electrocardiography ; Fatal Outcome ; Follow-Up Studies ; Humans ; Male ; Positron-Emission Tomography ; Severity of Illness Index ; Time Factors ; Transposition of Great Vessels/diagnosis
Language	English
Publishing date	2007-12
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1078466-4
ISSN	1467-1107 ; 1047-9511
ISSN (online)	1467-1107
ISSN	1047-9511
DOI	10.1017/S1047951107001321
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Article ; Online: Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont, Mary Ella M / Magoulas, Pilar L / Adi, Saleh / Kavamura, Maria Ines / Neri, Giovanni / Noonan, Jacqueline / Pierpont, Elizabeth I / Reinker, Kent / Roberts, Amy E / Shankar, Suma / Sullivan, Joseph / Wolford, Melinda / Conger, Brenda / Santa Cruz, Molly / Rauen, Katherine A

Pediatrics

2014 Volume 134, Issue 4, Page(s) e1149–62

Abstract: ... in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is ...

Abstract	Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
MeSH term(s)	Diagnosis, Differential ; Disease Management ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/therapy ; Facies ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Failure to Thrive/therapy ; Genetic Testing/methods ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/therapy ; Humans ; Practice Guidelines as Topic/standards
Language	English
Publishing date	2014-09-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2013-3189
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Article ; Online: Noonan syndrome: clinical features, diagnosis, and management guidelines.

Romano, Alicia A / Allanson, Judith E / Dahlgren, Jovanna / Gelb, Bruce D / Hall, Bryan / Pierpont, Mary Ella / Roberts, Amy E / Robinson, Wanda / Takemoto, Clifford M / Noonan, Jacqueline A

Pediatrics

2010 Volume 126, Issue 4, Page(s) 746–759

Abstract: Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized ... it is essential that the condition be identified and managed comprehensively. The Noonan ...

Abstract	Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.
MeSH term(s)	Humans ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/therapy
Language	English
Publishing date	2010-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2009-3207
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