Roy E. Weiss MD PhD FACP FACE, Samuel Refetoff MD's Genetic Diagnosis of Endocrine Disorders PDF

By Roy E. Weiss MD PhD FACP FACE, Samuel Refetoff MD

ISBN-10: 012374430X

ISBN-13: 9780123744302

Because the starting of the present century, endocrine sickness analysis and remedy have moved past the normal hormone measurements. whereas, certainly increased thyroid hormone degrees or low insulin degrees sign a particular endocrine illness, right analysis (and hence right therapy) will depend on an realizing of the molecular foundation for the sickness. This ebook provides the "bench to bedside" technique of our knowing of the genetic foundation for endocrine illness. It is geared up via endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular foundation for the analysis of a few of the issues may be mentioned. Emphasis may be put on the sensible nature of diagnosing a sickness. for instance: 1. Which exams can be performed for the analysis of Diabetes mellitus style I in young children who provided at below 6 months; at under 12 years, in maturity, etc., and why may still these checks be done?; 2. Which genes will be evaluated for topics with congenital hypothyroidism; three. Which genetic assessments will be ordered in obesity?; four. Which genetic try out may be ordered in a sufferer with Parathyroid Carcinoma?; five. what's the purpose at the back of checking out for a number of Endocrine Neoplasia? the sector of genetic analysis of disorder is exploding now, with a number of laboratories constructing checks for present scientific use. such a lot training endocrinologists, pediatricians and inner drugs physicians do not comprehend which attempt to reserve, how the checks are performed, or easy methods to interpret the implications. probably the most intriguing improvement in drugs this day is the pharmacogenomics revolution - enocrinologists and geneticists have to know the way customized drugs will healthy into the day-by-day care of sufferers. whereas this can be a speedy becoming region and there are textbooks on pharmacogenomics, there is not any one resource for the spectrum of Endocrine ailments. Features:* provides a entire, translational examine all facets of genetic analysis of endocrine problems in a single reference work.* Endocrinology specialists (the researchers who chanced on the vast majority of the gene mutations for a selected illness) educate readers in regards to the molecular foundation for illnesses in each one significant endocrine organ method* transparent presentation through geneticists of pharmacogenetics and the particular assays utilized in detecting endocrine illnesses * Genetic counselors supply professional recommendation on how one can use genetic info in counseling patientsBenefits:* presents a typical language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to debate and diagnose endocrine ailments* Saves clinicians and researchers time in quick gaining access to the very most recent info on genetic assessments and diagnoses rather than looking through millions of magazine articles.Correct analysis (and for that reason right therapy) of endocrine illnesses depends upon a robust knowing of the molecular foundation for the disorder - either endocrinologists and geneticists will gain* Endocrinologists will examine which genetic exams to invite for and which genes may be evaluated for every particular endocrine sickness* Endocrinologists will achieve perception into which medicinal drugs to take advantage of in line with the genetic makeup of a sufferer * Endocrinologists and geneticists will study the easiest concepts and prime use of genetic info within the sufferer counselling surroundings - now not whatever that's taught in so much clinical or graduate colleges

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Voisey, A. van Daal, Gene polymorphisms and their effects in the melanocortin system, Peptides 26 (2005) 1871–1885. 17. L. F. R. Zinn, Profound obesity associated with a balanced translocation that disrupts the SIM1 gene, Hum. Mol. Genet. 9 (2000) 101–108. 18. L. Michaud, F. Boucher, A. , Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the para­ventricular nucleus of the hypothalamus, Hum. Mol. Genet. 10 (2001) 1465–1473. 19. M. L. , T. , Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons, Mol.

Diabetes tends to develop in the second decade. Hepatomegaly is often prominent and Frequent infections Motor developmental delay Precocious puberty caused by severe non-alcoholic fatty liver disease (NAFLD) which generally progresses to non-alcoholic steatohepatitis (NASH) and even cirrhosis (believed to be the most common cause of death). In addition to the biochemical features of severe insulin resistance, these disorders are frequently characterized by severe hypertriglyceridemia which may be complicated by eruptive xanthomata and pancreatitis.

58. A. Preti, Axokine (Regeneron), IDrugs 6 (2003) 696–701. 59. H. Sariola, The neurotrophic factors in non-neuronal tissues, Cell. Mol. Life Sci. 58 (2001) 1061–1066. 60. G. Irani, Z. C. , Voluntary exercise delays monogenetic obesity and overcomes reproductive dysfunction of the melanocortin-4 receptor knockout mouse, Biochem. Biophys. Res. Commun. 326 (2005) 638–644. 61. Z. D. B. , Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor poly­morphisms, Biochemistry 46 (2007) 8273–8287.

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Genetic Diagnosis of Endocrine Disorders by Roy E. Weiss MD PhD FACP FACE, Samuel Refetoff MD

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