Inherited Disorders

Inherited Disorders

Author: Adam Ehrlich Sachs

Publisher: Simon and Schuster

Published: 2016-05-03

Total Pages: 272

ISBN-13: 1682450163

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A son receives an inheritance from his father and tries to dispose of it before it destroys him. Inherited Disorders tells this elemental story in over 100 hilarious, witty variations. Adam Ehrlich Sachs’s Inherited Disorders is a rueful, absurd, and endlessly entertaining look at a most serious subject—the eternally vexed relations between fathers and sons. In a hundred and seventeen shrewd, surreal vignettes, Sachs lays bare the petty rivalries, thwarted affection, and mutual bafflement that have characterized the filial bond since the days of Davidic kings. A philosopher’s son kills his father and explains his aphorisms to death. A father bequeaths to his son his jacket, deodorant, and political beliefs. England’s most famous medium becomes possessed by the spirit of his skeptical father—who questions, in front of the nation, his son’s choice of career. A Czech pianist amputates his fingers one by one to thwart his father, who will not stop composing concertos for him. A nineteenth-century Italian nobleman wills his ill-conceived flying contraption—incapable of actual flight—to his newborn son. In West Hollywood, an aspiring screenwriter must contend with the judgmental visage of his father, a respected public intellectual whose frozen head, clearly disappointed in him, he keeps in his freezer. Keenly inventive, but painfully familiar, these surprisingly tender stories signal the arrival of a brilliant new comic voice—and fresh hope for fathers and sons the world over.


The A-Z Reference Book of Syndromes and Inherited Disorders

The A-Z Reference Book of Syndromes and Inherited Disorders

Author: P A T R I C I A GILBERT

Publisher: Springer

Published: 2013-12-17

Total Pages: 389

ISBN-13: 1489969187

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The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.


Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders

Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders

Author: Nicola Brunetti-Pierri

Publisher: Springer

Published: 2017-05-22

Total Pages: 222

ISBN-13: 3319534572

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In this book, leading international experts analyze state-of-the-art advances in gene transfer vectors for applications in inherited disorders and also examine the toxicity profiles of these methods. The authors discuss the strengths and weaknesses of available vectors in the clinical setting, and specifically focus on the challenges and possible solutions that researchers are testing in order to improve the safety of gene therapy for genetic diseases. This comprehensive and authoritative overview of vector development is a necessary text for researchers, toxicologists, pharmacologists, molecular biologists, physicians, and students in these fields.


Inherited Metabolic Diseases

Inherited Metabolic Diseases

Author: Georg F. Hoffmann

Publisher: Springer Science & Business Media

Published: 2009-11-21

Total Pages: 380

ISBN-13: 3540747230

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The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.


Genetic Diseases of the Kidney

Genetic Diseases of the Kidney

Author: Richard P. Lifton

Publisher: Academic Press

Published: 2009-02-25

Total Pages: 895

ISBN-13: 0080924271

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Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)


Disorders of Hemoglobin

Disorders of Hemoglobin

Author: Martin H. Steinberg

Publisher: Cambridge University Press

Published: 2009-08-17

Total Pages: 883

ISBN-13: 0521875196

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Completely revised new edition of the definitive reference on disorders of hemoglobin.


Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults

Author: Carla E. M. Hollak

Publisher: Oxford University Press

Published: 2016

Total Pages: 657

ISBN-13: 0199972133

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As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.


Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders

Author: Roy E. Weiss

Publisher: Academic Press

Published: 2015-10-09

Total Pages: 462

ISBN-13: 0128011343

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Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing


Heritable Human Genome Editing

Heritable Human Genome Editing

Author: The Royal Society

Publisher: National Academies Press

Published: 2021-01-16

Total Pages: 239

ISBN-13: 0309671132

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Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.