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Sleep Disorders and Obesity in Childhood: A New Component in Solving Obesity. 儿童睡眠障碍与肥胖:解决肥胖的一个新组成部分。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-06-01 DOI: 10.17458/per.vol16.2019.apb.sleepdisordersobesitychildhood
Muge Atar, Özgür Pirgon, Atilla Buyukgebiz
{"title":"Sleep Disorders and Obesity in Childhood: A New Component in Solving Obesity.","authors":"Muge Atar,&nbsp;Özgür Pirgon,&nbsp;Atilla Buyukgebiz","doi":"10.17458/per.vol16.2019.apb.sleepdisordersobesitychildhood","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.apb.sleepdisordersobesitychildhood","url":null,"abstract":"<p><p>Sleep disorders have been widely reported in obese individuals. Previous studies have shown that together with an increase in obesity prevalence, so does sleep duration in children and adolescents decrease. By contributing to energy imbalances, hormonal changes occurring with reduced sleep quality may cause weight gain and obesity. Current evidence shows that short sleep duration has effects on body weight and weight gain. Compared to individuals sleeping for a normal duration, insulin sensitivity is lower in those who sleep less. Lack of sleep increases the desire for food and has a direct effect on physical activity. Further studies are required to determine the contribution of sufficient sleep to obesity treatment.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 4","pages":"441-451"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37367440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward? 激素及其对大脑的结构和功能影响:我们如何改变我们的实践?
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-06-01 DOI: 10.17458/per.vol16.2019.chm.hormonestructuraleffects
Bonnie McCann-Crosby, Laurel Hyle, David Mann, Sheila Gunn, Katherine Flynn, Jennifer Bercaw-Pratt, Oluyemisi Adeyemi, Jennifer Dietrich, Duong Tu, Paul F Austin, V Reid Sutton, Marni Axelrad, Lefkothea Karaviti
{"title":"Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?","authors":"Bonnie McCann-Crosby,&nbsp;Laurel Hyle,&nbsp;David Mann,&nbsp;Sheila Gunn,&nbsp;Katherine Flynn,&nbsp;Jennifer Bercaw-Pratt,&nbsp;Oluyemisi Adeyemi,&nbsp;Jennifer Dietrich,&nbsp;Duong Tu,&nbsp;Paul F Austin,&nbsp;V Reid Sutton,&nbsp;Marni Axelrad,&nbsp;Lefkothea Karaviti","doi":"10.17458/per.vol16.2019.chm.hormonestructuraleffects","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.chm.hormonestructuraleffects","url":null,"abstract":"<p><p>Is hormone treatment an invasive procedure? In this paper, we discuss aspects related to the choice of treating disorders of sex development (DSD) using hormones. Specifically, we focus on some of the challenging issues related to this treatment and the need to establish a standard of care for the use of hormone therapy in this patient population. The objectives of this paper are to: 1) Enhance understanding of the uncertainties in the decision-making process regarding hormonal interventions to treat patients with DSD. 2) Recognize that the effects of hormonal interventions might require a consent process similar to that applied for surgical procedures. 3) Emphasize the need to establish treatment algorithms that could form the basis of a standard of care for this patient population.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 4","pages":"452-456"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37370442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Meeting Report: 2019 Annual Meeting of the Endocrine Society New Orleans, LA (March 23-26, 2019)Selected Highlights. 会议报告:2019年内分泌学会年会，新奥尔良，洛杉矶(2019年3月23日至26日)
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-06-01 DOI: 10.17458/per.vol16.2019.asb.mr.2019annualneworleans
Swashti Agarwal, Amy Seagroves, Marwan Bakhach, Ishita Jindal
{"title":"Meeting Report: 2019 Annual Meeting of the Endocrine Society New Orleans, LA (March 23-26, 2019)Selected Highlights.","authors":"Swashti Agarwal,&nbsp;Amy Seagroves,&nbsp;Marwan Bakhach,&nbsp;Ishita Jindal","doi":"10.17458/per.vol16.2019.asb.mr.2019annualneworleans","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.asb.mr.2019annualneworleans","url":null,"abstract":"","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 4","pages":"468-477"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37370444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The History of Noonan Syndrome. 努南综合症的历史。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.m.historynoonan
Bradley S Miller
{"title":"The History of Noonan Syndrome.","authors":"Bradley S Miller","doi":"10.17458/per.vol16.2019.m.historynoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.m.historynoonan","url":null,"abstract":"<p><p>Early in her career, Jacqueline Noonan, a pediatric cardiologist, recognized that a number of children with valvular pulmonary stenosis had similar facial features. Dr. Noonan reported the clinical characteristics of this condition including short stature, hypertelorism, ptosis, mild mental retardation, undescended testes, and skeletal malformations. Further characterization of Noonan Syndrome led to the development of clinical criteria for the diagnosis of the condition. Identification of the first genetic cause of Noonan Syndrome, mutation of ptpn11 was reported in 2001. Multiple subsequent genes have been identified as causes of Noonan Syndrome and the related Rasopathies.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"424-427"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37261155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Molecular Genetics of Noonan Syndrome and RASopathies. 努南综合征和RASopathies的分子遗传学。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.lm.molecularnoonan
Jun Liao, Lakshmi Mehta
{"title":"Molecular Genetics of Noonan Syndrome and RASopathies.","authors":"Jun Liao,&nbsp;Lakshmi Mehta","doi":"10.17458/per.vol16.2019.lm.molecularnoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.lm.molecularnoonan","url":null,"abstract":"<p><p>The RAS/MAPK signaling pathway plays an essential role in development and tumorigenesis by regulating cell proliferation, differentiation, apoptosis, migration, and metabolism. Therefore, it is not surprising that germline mutations in genes encoding components or regulators of this signaling pathway cause numerous human genetic conditions, including Noonan syndrome and related disorders. The term \"RASopathies\" has been used to describe these disorders collectively due to their common underlying RAS/MAPK pathway dysregulation and overlapping clinical features. Taken together, the RASopathies represent one of the most common groups of genetic disorders, affecting approximately 1 in 1,000 individuals. This review describes the RAS/MAPK signaling pathway, summarizes multiple molecular genetic approaches used during the last several decades to discover genes responsible for different RASopathies, and finally focuses on several major disease genes associated with Noonan syndrome and related disorders with regard to genomic locations, structure, mutations, and genotype-phenotype correlations.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"435-446"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 13
Growth and Growth Hormone Treatment in Noonan Syndrome. 生长和生长激素治疗努南综合征。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.r.growthhormonenoonan
Alicia A Romano
{"title":"Growth and Growth Hormone Treatment in Noonan Syndrome.","authors":"Alicia A Romano","doi":"10.17458/per.vol16.2019.r.growthhormonenoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.r.growthhormonenoonan","url":null,"abstract":"<p><p>Short stature is a common characteristic of Noonan Syndrome (NS), a genetic condition caused by mutations affecting the RAS / mitogen-activated protein kinase (MAPK) cascade. Growth hormone (GH) has been used to normalize childhood growth and increase adult height in NS. GH is effective in increasing growth velocity, and significantly improves height SDS at adult height. Studies of GH treatment to adult height have shown height gains of 9.5-13.0 cm for males and 9.0 - 9.8 cm for females. Factors associated with improved height outcomes are earlier initiation of therapy, a greater height SDS at pubertal onset, and a longer duration of GH therapy. The safety data to date is reassuring and includes no evidence of adverse cardiac effects or increased occurrence of malignancies. Further studies will likely clarify the role of different RAS/MAPK pathway aberrations in growth and GH responsiveness. Continued surveillance is needed to assure the long term safety of GH therapy.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"459-464"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Cardiac Manifestations of Noonan Syndrome. 努南综合征的心脏表现。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.kpg.manifestationsnoonan
Ruchika Karnik, Miwa Geiger
{"title":"Cardiac Manifestations of Noonan Syndrome.","authors":"Ruchika Karnik,&nbsp;Miwa Geiger","doi":"10.17458/per.vol16.2019.kpg.manifestationsnoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.kpg.manifestationsnoonan","url":null,"abstract":"<p><p>Noonan syndrome NS, a RASopathy, is commonly seen in association with cardiovascular abnormalities, with structural defects and/or cardiomyopathy present in 80-90-% of cases. Though a wide spectrum of cardiac pathology has been reported, pulmonary stenosis is the most common structural abnormality and more likely to be seen in PTPN11 mutations. Hypertrophic cardiomyopathy is the second most common and is more often associated with RAF1 mutations. Cardiac disease tends to be more progressive in infants and children with NS and therefore close cardiology follow-up is indicated. In general, the earlier the presentation, the more severe the phenotype and worse the long term prognosis. As genotype phenotype associations are being better understood, the mechanisms for development of cardiomyopathy are also becoming elucidated, raising the possibility of medical therapies targeted at the involved pathway.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"471-476"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Clinical Manifestations of Noonan Syndrome and Related Disorders. 努南综合征及相关疾病的临床表现。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.bm.clinicalnoonan
Margo Sheck Breilyn, Lakshmi Mehta
{"title":"Clinical Manifestations of Noonan Syndrome and Related Disorders.","authors":"Margo Sheck Breilyn,&nbsp;Lakshmi Mehta","doi":"10.17458/per.vol16.2019.bm.clinicalnoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.bm.clinicalnoonan","url":null,"abstract":"<p><p>Noonan syndrome represents a heterogeneous group of genetic disorders caused by mutations in genes of the RAS/MAPK pathway. Related syndromes include cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines and Costello syndrome. The common phenotypic features of Noonan syndrome include facial dysmorphisms, short stature, congenital heart defects and genitourinary abnormalities. These and other findings as well as features of related disorders are discussed. In addition we briefly review clinical diagnosis and prenatal findings of these syndromes and genetic counseling implications.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"428-434"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Pathogenesis of Growth Failure in Rasopathies. Rasopathies生长衰竭的发病机制。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.ad.pathogenesisrasopathies
Sommayya Aftab, Mehul T Dattani
{"title":"Pathogenesis of Growth Failure in Rasopathies.","authors":"Sommayya Aftab,&nbsp;Mehul T Dattani","doi":"10.17458/per.vol16.2019.ad.pathogenesisrasopathies","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.ad.pathogenesisrasopathies","url":null,"abstract":"<p><p>The RASopathies are a group of developmental genetic syndromes that are caused by germline mutations in genes encoding proteins of the Ras-Mitogen-Activated Protein kinase (RAS-MAPK) pathway. RASopathies include Noonan Syndrome (NS), Neurofibromatosis Type 1 (NF1), Noonan syndrome with multiple lentigines (NSML/LEOPARD), Costello syndrome (CS), Cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM) and Legius Syndrome. These syndromes have many overlapping features; however, the most persistent feature common to all is the postnatal growth failure. The mechanism of growth failure in Rasopathies is highly complex and there are many proposed hypotheses including partial growth hormone insensitivity, growth hormone deficiency, neurosecretory dysfunction of growth hormone secretion, delayed puberty, poor feeding and skeletal abnormalities. Amongst these causes, the most widely accepted is partial growth hormone insensitivity due to a post-receptor signaling defect. Growth hormone therapy seems to be effective in improving height velocity in these syndromes, although the long-term effects on final height remain unproven. However, it is important to consider the potential risk of tumors and cardiomyopathy before and during growth hormone therapy.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"447-458"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Endocrine Complications of Noonan Syndrome beyond Short Stature. 努南综合征除矮小外的内分泌并发症。
4区 医学
Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI: 10.17458/per.vol16.2019.vr.endocrinecomplicationsnoonan
Vijay Venugopal, Christopher J Romero
{"title":"Endocrine Complications of Noonan Syndrome beyond Short Stature.","authors":"Vijay Venugopal,&nbsp;Christopher J Romero","doi":"10.17458/per.vol16.2019.vr.endocrinecomplicationsnoonan","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.vr.endocrinecomplicationsnoonan","url":null,"abstract":"<p><p>Noonan syndrome (NS) is a diagnosis that is made clinically based on features including typical facies, congenital heart defects, short stature and developmental delay. Approximately 50% of the patients have identified mutations in the PTPN11 gene, and a smaller percentage of mutations have been reported in other genes such as SOS1, RAF1 and RIT1 Despite normal birth length, patients typically reach adult height below normal. Other than growth, endocrine complications of NS are not as commonly reported. These include possible pathology in thyroid function, pubertal development and bone metabolism. Some investigators have looked to see if genetic mutations in these patients could pose a risk for future endocrinopathies. This chapter reviews reports on endocrine dysfunction other than growth in patients with NS. The information is meant to enhance awareness in those providers who care for these patients to the possibility of other existing endocrinopathies. Most importantly, it supports and highlights the endocrinologist's role in the care of patients with NS.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 2","pages":"465-470"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37262136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
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