The Resource Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff

Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff

Label
Genetic diagnosis of endocrine disorders
Title
Genetic diagnosis of endocrine disorders
Statement of responsibility
edited by Roy E. Weiss, Samuel Refetoff
Contributor
Subject
Language
eng
Summary
Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases
Cataloging source
OPELS
Dewey number
616.4042
Illustrations
  • illustrations
  • plates
Index
index present
LC call number
RC648
LC item number
.G46 2010
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
Label
Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff
Publication
Bibliography note
Includes bibliographical references and index
http://library.link/vocab/branchCode
  • net
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Contents
Mechanisms of Mutation -- Section 2: Pancreas -- Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes -- Obesity -- Syndromes of Severe Insulin Resistance and/or Lipodystrophy -- Section 3: Pituitary -- Functioning Pituitary Adenomas -- Diabetes Insipidus -- States of Pituitary Hypofunction -- Section 4: Thyroid -- Congenital Defects of Thyroid Hormone Synthesis -- Developmental Abnormalities of the Thyroid -- Syndromes of Reduced Sensitivity to Thyroid Hormone -- Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications -- Section 5: Parathyroid and Bone -- Genetics of Hyperparathyroidism Including Parathyroid Cancer -- Genetic Diagnosis of Skeletal Dysplasias -- Vitamin D Disorders -- Section 6: Adrenal -- Congenital Adrenal Hyperplasia -- Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes -- Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2) -- Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance -- Section 7: Reproductive -- Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities -- Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome -- Disorders of Sex Development -- Genetic Defects of Androgen Resistance -- Section 8: Multisystem Disorders -- Multiple Endocrine Neoplasia Type 1 (MEN1) -- Genetics of Polyglandular Failure -- Section 9: Growth -- Genetic Diagnosis of Growth Failure -- Section 10: Counseling and Laboratory -- Genetic Counseling -- Setting up a Laboratory
Control code
ocn643058047
Dimensions
unknown
Edition
1st ed
Extent
1 online resource (x, 323 pages, [8] pages of plates)
Form of item
online
Isbn
9780080922287
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other control number
9786612737374
Other physical details
illustrations (some color)
http://library.link/vocab/ext/overdrive/overdriveId
152886:153041
http://library.link/vocab/recordID
.b2464576x
Specific material designation
remote
System control number
  • (OCoLC)643058047
  • ebl0080922287

Library Locations

    • Deakin University Library - Geelong Waurn Ponds CampusBorrow it
      75 Pigdons Road, Waurn Ponds, Victoria, 3216, AU
      -38.195656 144.304955
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