January 21, 2021

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Noonan Syndrome

Noonan Syndrome
Author : Amrit P.S. Bhangoo
Publisher : Academic Press
Release Date : 2019-05-16
Category : Medical
Total pages :215
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Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. Provides an accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of Noonan syndrome Offers an important resource for physicians who see and treat individual symptoms, rather than a disease complex, covering the important characteristics in the presence of heart anomalies and perioperative considerations Reviews multidisciplinary and post-treatment management of the disease

Noonan Syndrome and Related Disorders

Noonan Syndrome and Related Disorders
Author : Martin Zenker
Publisher : Karger Medical and Scientific Publishers
Release Date : 2009
Category : Medical
Total pages :167
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In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.

Noonan Syndrome

Noonan Syndrome
Author : Amrit P.S. Bhangoo
Publisher : Academic Press
Release Date : 2019-05-16
Category : Medical
Total pages :215
GET BOOK

Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. Provides an accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of Noonan syndrome Offers an important resource for physicians who see and treat individual symptoms, rather than a disease complex, covering the important characteristics in the presence of heart anomalies and perioperative considerations Reviews multidisciplinary and post-treatment management of the disease

Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition

Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2012-01-09
Category : Medical
Total pages :24
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Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Noonan Syndrome: New Insights for the Healthcare Professional: 2012 Edition

Noonan Syndrome: New Insights for the Healthcare Professional: 2012 Edition
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2012-12-10
Category : Medical
Total pages :24
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Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Ultrasound of Fetal Syndromes

Ultrasound of Fetal Syndromes
Author : Beryl R. Benacerraf
Publisher : Elsevier Health Sciences
Release Date : 2008
Category : Medical
Total pages :650
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This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered. Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis. Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome. Offers up-to-date information on how to manage borderline sonographic findings. Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome. Includes more than 500 new images, many of which are 3D ultrasound images. Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome. Takes full advantage of a new full color design to make reference even easier. Presents ultrasound video ciips as they would appear in practice on the bonus DVD.

First‐year Growth in Children with Noonan Syndrome: Associated with Feeding Problems?.

First‐year Growth in Children with Noonan Syndrome: Associated with Feeding Problems?.
Author : Anonim
Publisher : Unknown
Release Date : 2018
Category :
Total pages :129
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Abstract : Children with Noonan syndrome show rapid decline of growth in the first year of life and feeding problems are present in over 50%. The aim of this study was to explore whether growth decelerates because of feeding problems or other Noonan syndrome‐related factors. We performed a retrospective, longitudinal cohort study of clinically and genetically diagnosed subjects with Noonan syndrome ( n = 143). Questionnaires about the phenotypic–genotypic profile and reported feeding problems were sent to eligible subjects. Data on first‐year growth was obtained from growth charts. Ninety‐one participants were excluded because of different criteria. A total of 52 subjects with Noonan syndrome were included. The largest decline in weight and length standard deviation score (SDS) occurred in the first 2.5 months after birth (−1.93 and −1.15, respectively), with feeding problems causing a decline of 0.57 SDS in the remaining months. At 1 year, children with feeding problems were on average 290 g lighter and 0.8 cm shorter than children without feeding problems. Weight gain was also negatively influenced by having a PTPN11 mutation ( n = 39) and a higher gestational age, whereas children of parents with Noonan syndrome and with a higher birth weight gained more weight. Growth in length was reduced by having cardiac surgery and a higher gestational age, but positively influenced by birth length and maternal height. Growth in children with Noonan syndrome is impaired right after birth and only partially associated with feeding problems. In addition, several specific Noonan syndrome‐related factors seem to influence growth in the first year.

Management of Genetic Syndromes

Management of Genetic Syndromes
Author : Suzanne B. Cassidy,Judith E. Allanson
Publisher : John Wiley & Sons
Release Date : 2011-09-20
Category : Medical
Total pages :984
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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Congenital Heart Disease

Congenital Heart Disease
Author : Mary Kearns-Jonker
Publisher : Springer Science & Business Media
Release Date : 2006
Category : Medical
Total pages :278
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Prominent researchers and clinicians describe in detail all the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods.

Pediatric Endocrinology, An Issue of Endocrinology and Metabolism Clinics - E-Book

Pediatric Endocrinology, An Issue of Endocrinology and Metabolism Clinics - E-Book
Author : Robert Rapaport
Publisher : Elsevier Health Sciences
Release Date : 2012-11-14
Category : Medical
Total pages :240
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This issue of Endocrinology and Metabolism Clinics provides essential updates across the spectrum of pediatric endocrinology. Topics covered include Prevention of type 1 and type 2 diabetes mellitus; genetics of growth; diagnosis in prepubescent girls; Turner and Noonan Syndromes; thyroid function in Down Syndrome; chronic disease; effects of ADHD treatment on growth; Vitamin D and bone health; use of statins; and obesity prevention.

Neonatal Dermatology E-Book

Neonatal Dermatology E-Book
Author : Lawrence F. Eichenfield,Ilona J. Frieden,Erin Mathes,Andrea Zaenglein,Nancy B. Esterly
Publisher : Elsevier Health Sciences
Release Date : 2007-12-20
Category : Medical
Total pages :584
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Comprehensive and heavily illustrated, this is a unique reference for anyone involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. In addition to over 500 superb photographs of normal and abnormal skin conditions, this latest edition also includes new algorithms, new tables, and new care plans. Simple to use text and tables for reference during daily practice. Comprehensive information on infant skin care and toxicology. Differential diagnosis aided by lists, text and images. Assists with work-up and management of common and rare conditions New Care Plan boxes help you to outline your diagnosis and treatment plan. Differential diagnosis algorithms guide you to more effective decision making. New illustrations and photos provide even more visual examples than before.

Craniofacial Abnormalities—Advances in Research and Treatment: 2012 Edition

Craniofacial Abnormalities—Advances in Research and Treatment: 2012 Edition
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2012-12-26
Category : Medical
Total pages :25
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Craniofacial Abnormalities—Advances in Research and Treatment: 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Craniofacial Abnormalities in a compact format. The editors have built Craniofacial Abnormalities—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Craniofacial Abnormalities in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Craniofacial Abnormalities—Advances in Research and Treatment: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Handbook of Growth and Growth Monitoring in Health and Disease

Handbook of Growth and Growth Monitoring in Health and Disease
Author : Victor R. Preedy
Publisher : Springer Science & Business Media
Release Date : 2011-12-03
Category : Medical
Total pages :3164
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Growth is one of the human body’s most intricate processes: each body part or region has its own unique growth patterns. Yet at the individual and population levels, growth patterns are sensitive to adverse conditions, genetic predispositions, and environmental changes. And despite the body’s capacity to compensate for these developmental setbacks, the effects may be far-reaching, even life-long. The Handbook of Growth and Growth Monitoring in Health and Disease brings this significant and complex field together in one comprehensive volume: impact of adverse variables on growth patterns; issues at different stages of prenatal development, childhood, and adolescence; aspects of catch-up growth, endocrine regulation, and sexual maturation; screening and assessment methods; and international perspectives. Tables and diagrams, applications to other areas of health and disease, and summary points help make the information easier to retain. Together, these 140 self-contained chapters in 15 sections [ok?] cover every area of human growth, including: Intrauterine growth retardation. Postnatal growth in normal and abnormal situations. Cells and growth of tissues. Sensory growth and development. Effects of disease on growth. Methods and standards for assessment of growth, and more. The Handbook of Growth and Growth Monitoring in Health and Disease is an invaluable addition to the reference libraries of a wide range of health professionals, among them health scientists, physicians, physiologists, nutritionists, dieticians, nurses, public health researchers, epidemiologists, exercise physiologists, and physical therapists. It is also useful to college-level students and faculty in the health disciplines, and to policymakers and health economists.

Endocrinology Adult and Pediatric: Neuroendocrinology and The Pituitary Gland E-Book

Endocrinology Adult and Pediatric: Neuroendocrinology and The Pituitary Gland E-Book
Author : Shlomo Melmed,J. Larry Jameson,Leslie J. De Groot
Publisher : Elsevier Health Sciences
Release Date : 2013-05-09
Category : Medical
Total pages :416
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Apply the latest advances in management of neuroendocrine and pituitary disorders with the Endocrinology: Adult and Pediatric: Neuroendocrinology and The Pituitary Gland eBook! Brought to you by the same expert endocrinologists responsible for the highly acclaimed two-volume Endocrinology clinical reference, this endocrinology eBook puts all of the newest latest know-how of the Pituitary Gland and Neuroendocrinology at your fingertips, instantly accessible on your favorite eReader - so you can offer your patients the best care. Stay abreast of the newest knowledge on neuroendocrinology and the pituitary gland, including our most recent understanding of the fundamental cellular and physiologic functions of the neuroendocrine system, mechanisms underlying clinical disorders, and approaches to managing patients harboring disorders of the hypothalamus and pituitary gland. Approach any subject either by specific gland or through a discussion of multi-hormonal integration of endocrine function, as led by the "master conductor of the endocrine orchestra," the pituitary gland. Gain a state-of-the-art understanding of comprehensive descriptors, integrating endocrine cell ontogeny, hormonal control of growth and maturation processes, and childhood and young adult pathophysiology with maturation and aging processes. Count on all the authority that has made Endocrinology, 6th Edition, edited by Drs. Jameson and DeGroot, the go-to medical reference for endocrinologists worldwide. Make the best clinical endocrinology decisions with an enhanced emphasis on evidence-based practice in conjunction with expert opinion. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Compatible with Kindle®, nook®, and other popular devices.

Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics,

Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics,
Author : Dean M. DeLuke
Publisher : Elsevier Health Sciences
Release Date : 2014-08-28
Category : Medical
Total pages :469
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This issue of the Atlas of the Oral and Maxillofacial Surgery Clinics of North America serves as an aid to identification of 70 of the more important head and neck syndromes, and organized using the same nosology as in the landmark text of Robert Gorlin. As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech and language specialist, geneticist, plastic surgeon, ENT specialist, pediatrician, nurse coordinator, and others. Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes; Branchial Arch Syndromes; Clefting Syndromes; Syndromes Affecting the Central Nervous System; Chromosomal Syndromes; Syndromes with Unusual Facies; and Syndromes with Unusual Dental Findings or Gingival Components.