Overgrowth Syndromes
Overgrowth Syndromes

Author: Giovanni Neri

Publisher: Oxford University Press

Published: 2019-02-15

Total Pages: 287

ISBN-13: 0190944919

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Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.

Overgrowth Syndromes
Overgrowth Syndromes

Author: Meyer Michael Cohen

Publisher:

Published: 2002

Total Pages: 232

ISBN-13:

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Overgrowth Syndromes presents a broad yet in-depth discussion of children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length, and head circumference. Many of these syndromes are associated with an increased frequency of tumors. The book is important because of the ever-increasing number of newly identified overgrowth syndromes and the rapid progression of molecular knowledge of these conditions. It covers: Beckwith Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, and fragile X syndrome, among other topics. Each chapter provides a historical perspective and deals with epidemiology, etiology, and molecular biology when known, clinical and pathological features, diagnostic criteria, and differential diagnosis. The book is encyclopedic in scope. It will be of value to pediatricians, medical geneticists, oncologists, hematologists, surgeons, pathologists, radiologists, dermatologists, nephrologists, and molecular biologists.

Cassidy and Allanson's Management of Genetic Syndromes
Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Vascular Anomalies
Vascular Anomalies

Author: Cameron C. Trenor III

Publisher: Springer Nature

Published: 2020-07-24

Total Pages: 235

ISBN-13: 3030256243

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This volume is a practical resource for the diagnosis and multi-disciplinary management of patients with vascular anomalies. Although designed by and for hematologists and oncologists, this text also assists clinicians in many specialties with appropriate nomenclature, diagnosis, and management of the heterogeneous disorders considered as vascular anomalies, including kaposiform hemangioendothelioma, capillary malformations, venous malformations, lymphatic anomalies, and arteriovenous malformation. The book features full-color clinical photographs and diagnostic imaging to enrich descriptions of these conditions and to ensure accurate diagnosis for appropriate management recommendations. Written by experts in their fields, Vascular Anomalies: A Guide for the Hematologist/Oncologist is a valuable resource for clinicians treating and researchers studying patients with vascular anomalies.

Transporters in Drug Discovery and Development
Transporters in Drug Discovery and Development

Author: Yurong Lai

Publisher: Woodhead Publishing

Published: 2014-08-22

Total Pages: 759

ISBN-13: 190881828X

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Written by a leading researcher in the field, Transporters in Drug Discovery and Development provides a comprehensive and practical guide to drug transporter families that are the most important for drug discovery and development. It covers: an overview of transporter families and organ distribution; clinical relevant drug-drug interaction; clinical relevant polymorphism; drug transporter related pharmacokinetic, pharmacodynamics and toxicity; in vitro/in vivo probes of drug transport studies; the practical methodologies of industrial transporter screening and translational aspect in drug discovery and developments. - A comprehensive overview of drug transporter families and their clinical relevance in drug discovery and development - Balanced coverage of molecular biology aspects and functional outcomes - State of art knowledge related to transporter-mediated DDI and the clinical relevance in pharmacokinetics, dynamics, and toxicity

Genetic Steroid Disorders
Genetic Steroid Disorders

Author: Maria I. New

Publisher: Academic Press

Published: 2023-06-14

Total Pages: 470

ISBN-13: 0128214252

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Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient - Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Epigenetics in Psychiatry
Epigenetics in Psychiatry

Author: Jacob Peedicayil

Publisher: Academic Press

Published: 2021-08-21

Total Pages: 848

ISBN-13: 0128235780

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Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field

Case Files High-Risk Obstetrics
Case Files High-Risk Obstetrics

Author: Eugene C. Toy

Publisher: McGraw Hill Professional

Published: 2010-11-26

Total Pages: 528

ISBN-13: 0071605444

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Real patients, real cases teach you high-risk obstetrics "This is an excellent handbook on high risk obstetrics. The ideal audience is medical students or residents in the field who like real life scenarios to accentuate their learning. It is best suited for those in a time crunch, and residents and students certainly qualify. 3 Stars."--Doody's Review Service Case Files: High-Risk Obstetrics uses fifty clinical cases to illustrate evidence-based practice in high-risk obstetrics patients. Each case includes open-ended questions, extended discussion, Practice Pearls, a “Controversy” discussion, comprehension questions, and references to the most current literature with a brief critique of each article. This unique learning system teaches you to be a better clinician by learning in the context of real patients and reinforcing the latest evidence-based medicine. Features Clear and easy-to-follow case-based format helps residents and fellows develop clinical thinking skills Based on current journal articles and landmark studies, with an accompanying brief critique "Practical Pearls" give evidence-based recommendations for patient management "Controversy" feature discusses current controversies and different views related to each case Multiple-choice comprehension questions accompany each case Original line drawings and clinical images Proven learning system improves exam scores

Preventive Management for Children with Genetic Conditions
Preventive Management for Children with Genetic Conditions

Author: Golder Wilson

Publisher: Cambridge University Press

Published: 2006

Total Pages: 588

ISBN-13: 9780521617345

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Provides health professionals with a structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

Phosphate Metabolism
Phosphate Metabolism

Author: Shaul Massry

Publisher: Springer Science & Business Media

Published: 2013-11-21

Total Pages: 611

ISBN-13: 1461342171

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We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.