Download Pathophysiology of Disease: An Introduction to Clinical by Stephen J. McPhee, Gary D. Hammer PDF

By Stephen J. McPhee, Gary D. Hammer

A full-color, case-based evaluate of the necessities of pathophysiology--covering all significant organs and systems
The target of this relied on textual content is to introduce you to medical drugs through reviewing the pathophysiologic foundation of one hundred twenty illnesses (and linked symptoms) regularly encountered in clinical perform. The authors, all specialists of their respective fields, have supplied a concise evaluate of appropriate basic constitution and serve as of every physique method, by way of an outline of the pathophysiologic mechanisms that underlie numerous universal illnesses on the topic of that system.

Each bankruptcy of Pathophysiology of ailment concludes with a set of case reports and questions designed to check your realizing of the pathophysiology of every scientific entity mentioned. those case experiences let you observe your wisdom to express medical events. particular solutions to every case research query are supplied on the finish of the booklet. This special interweaving of physiological and pathological techniques will positioned you at the course towards wondering symptoms when it comes to their pathophysiologic foundation, providing you with an figuring out of the "why" at the back of affliction and treatment.

Features

120 case stories (9 new) provide a chance that you can try out your realizing of the pathophysiology of every medical entity discussed
Checkpoint questions supply evaluate and seem in each chapter
Updates and revisions all through this new version mirror the newest study and developments
Numerous tables and diagrams encapsulate very important information
Updated references for every bankruptcy topic
Pathophysiology of ailment is a real must-have source for clinical scholars getting ready for the USMLE Step 1 examination, in addition to scholars engaged of their clerkship experiences. residence officials, nurses, nurse practitioners, physicians’ assistants, and allied health and wellbeing practitioners will locate its concise presentation and wide scope a good assist in facilitating their figuring out of universal affliction entities.

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Extra info for Pathophysiology of Disease: An Introduction to Clinical Medicine (7th Edition)

Sample text

Therefore, for diseases like LHON and MERRF caused by defects in mtDNA, the conditions show a characteristic pattern of maternal inheritance (Figure 2–10) in which all offspring of an affected female are at risk but affected males never transmit the condition. A second unique feature of diseases caused by mutations in mtDNA is the mosaic nature of the mutation within individual cells. Typically, a single cell contains 10–100 separate mtDNA molecules; in the case of an mtDNA mutation, only a fraction of the molecules carry the mutation, a situation referred to as heteroplasmy.

The Metabolic and Molecular Bases of Inherited Disease, 7th ed. McGraw-Hill, 1995. Nonetheless, on average, mental retardation in mosaic trisomy 21 is generally milder than in nonmosaic trisomy 21. Genetic Principles A fundamental question in understanding the relationship between an extra chromosome 21 and the clinical features of Down syndrome is whether the phenotype is caused by abnormal gene expression or an abnormal chromosomal constitution. An important principle derived from studies directed at this question is that of gene dosage, which states that the amount of a gene product produced per cell is proportionate to the number of copies of that gene present.

For both LHON CHAPTER 2 Genetic Disease Blindness Hearing loss FIGURE 2–10 Maternal inheritance. An idealized pedigree illustrating maternal inheritance, which occurs in disease caused by mutations in mitochondrial DNA. Mothers transmit the mutated mtDNA to all of their offspring, but fathers do not. Variable expressivity and reduced penetrance are a consequence of different levels of heteroplasmy. 21 and MERRF, levels of mutant mtDNA may vary from about 50% to about 90%; in general, the severity of the condition correlates with the extent of heteroplasmy.

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