Clinical Pediatric Endocrinology, Fifth Edition by Fima Lifshitz

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By Fima Lifshitz

This new version of the benchmark textual content on medical pediatric endocrinology nonetheless is still on the vanguard of worldwide medical opinion. moreover, the fashion, which has been the hallmark of the publication for the final two decades, has been maintained for this 5th Edition.

New good points of this 5th version include:

  • Special new chapters hide the fetal origins of grownup affliction and the
    endocrine effects and administration of severe illness
  • Now opens with a easy technology part summarizing the mechanisms of hormone motion, genomics, proteomics and the appliance of molecular biology to medical practice
  • Two new co-editors were brought - Peter Clayton and Rosalind Brown
  • Every bankruptcy has been updated

Chapter 1 ideas of Hormone motion (pages 1–17): Melissa Westwood
Chapter 2 Genetics, Genomics, Proteomics, and Bioinformatics (pages 18–44): Peter Kopp
Chapter three Measuring Hormones, Molecular assessments, and Their scientific program (pages 45–66): Jan M. Wit and Marcel Karperien
Chapter four Congenital problems of the Hypothalamic?Pituitary Axis (pages 67–89): Ameeta Mehta and Mehul T. Dattani
Chapter five general and Disordered development (pages 90–112): Leena Patel and Peter E. Clayton
Chapter 6 Genetic Syndromes and Dysmorphology (pages 113–123): Jennifer Batch
Chapter 7 obtained Abnormalities of the Hypothalamic?Pituitary Axis resulting in progress Impairment (pages 124–152): Dennis J. Brenner and Edward O. Reiter
Chapter eight improvement of the Reproductive platforms (pages 153–170): John C. Achermann
Chapter nine Ambiguous Genitalia (pages 171–182): Ieuan A. Hughes
Chapter 10 common and irregular Puberty (pages 183–210): Mehul T. Dattani and Peter C. Hindmarsh
Chapter eleven Gynecology (pages 211–217): Sarah M. Creighton
Chapter 12 The Thyroid and its problems (pages 218–253): Rosalind S. Brown and Stephen Huang
Chapter thirteen The Parathyroid and issues of Calcium Metabolism (pages 254–279): Jeremy Allgrove
Chapter 14 problems of Bone Metabolism (pages 280–292): Ingrid A. Holm
Chapter 15 The Adrenal Cortex and its problems (pages 293–351): Walter L. Miller
Chapter sixteen Polyglandular Syndromes (pages 352–366): Catherine J. Owen, Tim D. Cheetham and Simon H.S. Pearce
Chapter 17 problems of Water stability (pages 367–395): Rebecca P. eco-friendly, Joseph A. Majzoub and Louis J. Muglia
Chapter 18 Endocrine Programming and the Fetal and Early?Life Origins of grownup ailment (pages 396–409): Caroline H.D. Fall
Chapter 19 Weight rules and Monogenic weight problems (pages 410–418): I. Sadaf Farooqi
Chapter 20 Metabolic effects of weight problems and Their administration (pages 419–435): Michael Freemark
Chapter 21 Diabetes Mellitus (pages 436–473): Andrew W. Norris and Joseph I. Wolfsdorf
Chapter 22 Hypoglycemia (pages 474–491): Khalid Hussain and Mark J. Dunne
Chapter 23 Endocrine outcomes of Systemic illness: serious ailment (pages 492–504): Greet Van Den Berghe
Chapter 24 effects of Radiotherapy, Chemotherapy, and Bone Marrow Transplant (pages 505–522): Helena A. Davies
Chapter 25 assessments and basic Values in Pediatric Endocrinology (pages 523–564): Lesley J. Tetlow and Peter E. Clayton

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Extra resources for Clinical Pediatric Endocrinology, Fifth Edition

Sample text

Genetic testing is more complex 34 because several different genes need to be considered along with the possibility of different mutations in each of the candidate genes. Phenocopies designate a phenotype that is identical or similar but results from non-genetic or other genetic causes. For example, obesity may be due to several Mendelian defects or have a primarily behavioral origin. As in non-allelic heterogeneity, the presence of phenocopies has the potential to confound linkage studies and genetic testing.

After differential labeling of the two RNA populations with fluorescent probes, the samples are mixed and hybridized to the probes on the slide. The slide is then scanned once for each fluorophore. The intensity of the emitted signal on each spot permits calculation of the ratios of each RNA that binds to the respective probe. can be detected easily (see Plate 1, facing p. 148). This allows staining of specific DNA segments in situ on a metaphase chromosome spread or within a cell nucleus. FISH is widely used for diagnostic cytogenetic analyses and in the mapping of genes.

Gene conversion often involves exchange of DNA between a gene and a related pseudogene. For example, the 21-hydroxylase gene (CYP21A) is adjacent to a nonfunctional pseudogene. Many of the nucleotide substitutions found in the CYP21A gene in patients with congenital adrenal hyperplasia correspond to sequences present in the pseudogene, suggesting gene conversion as the underlying mechanism of mutagenesis. In addition, mitotic gene conversion has been suggested as a mechanism to explain revertant mosaicism in which an inherited mutation is “corrected” in certain cells.

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