Disease Nosology and Precision Medicine

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Questions and Answers

What is the basis for modern disease nosology?

  • Cultural beliefs about health
  • Personal opinions of physicians
  • Holistic descriptions of diseases
  • Clinicopathologic observation (correct)

What significant publication did Morgagni create in 1761?

  • De Sedibus et Causis Morborum per Anatomen Indagatis (correct)
  • Principles of Surgery
  • On the Origin of Species
  • The Anatomy of Human Destructiveness

What does Occam's razor refer to in the context of disease classification?

  • A strategy for comprehensive gene mapping
  • A technique for holistic patient assessments
  • A principle that simplifies complex problems to their most basic form (correct)
  • A method for diagnosing rare diseases

What is a major limitation of traditional Oslerian diagnostics?

<p>They oversimplify the differentiation of diseases with similar symptoms (C)</p> Signup and view all the answers

Why has the classification of neurodegenerative disorders become more precise over time?

<p>Identification of underlying etiologies of diseases (D)</p> Signup and view all the answers

What can be a result of a lack of understanding of disease complexities?

<p>Ineffective therapies for certain diseases (A)</p> Signup and view all the answers

What approach has been held for over a century in defining human disease?

<p>Oslerian diagnostics (D)</p> Signup and view all the answers

What is often required to correlate clinical signs with pathoanatomy?

<p>Autopsy material (C)</p> Signup and view all the answers

What can different diseases cause that complicates their classification?

<p>End-stage kidney disease (A)</p> Signup and view all the answers

What does modern disease nosology aim to improve by identifying underlying etiologies?

<p>Predictable prognostic information for patients (C)</p> Signup and view all the answers

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Flashcards

Classic Disease Nosology

A method for categorizing diseases primarily based on observable symptoms, anatomical changes identified during autopsies, and simplified explanations. Focuses on the end organ affected and late-stage presentations.

Occam's Razor

The principle that emphasizes the simplest explanation as the most likely to be true. In disease nosology, it led to simplifying disease classifications.

Precision Medicine

An approach to disease classification that focuses on the underlying causes and molecular mechanisms rather than solely relying on observable symptoms and anatomical changes.

Diseases with Common Pathophenotypes

Medical conditions that share similar observable symptoms and anatomical changes but have different underlying causes.

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Pathophysiology

The study of disease development, progression, and mechanisms.

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Predictable Prognosis

The ability to predict the course of a disease in an individual patient, often based on factors like underlying causes and molecular characteristics.

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Disease Drivers

The specific molecules that drive the development and progression of a disease.

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Molecular Complexity

The branch of medicine focused on identifying and characterizing the underlying molecular mechanisms of disease.

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Syndrome

A collection of symptoms associated with a particular disease.

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Disease Nosology

The study of diseases and their classification.

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Study Notes

Disease Nosology and Precision Medicine

  • Modern disease classification emerged in the late 1800s, contrasting with earlier, more general descriptions.
  • Disease definition relies on clinical and pathological observations.
  • Diseases were often categorized by the organ affected and late-stage symptoms, as autopsies were necessary for correlations.
  • Morgagni's work, "De Sedibus et Causis Morborum," pioneered this approach by correlating clinical cases with over 600 autopsies from Padua University, establishing an anatomical basis for disease.
  • This approach used inductive reasoning and Occam's Razor, simplifying disease definitions.
  • While this approach to describing diseases has been effective, its oversimplified nature has limitations.
  • Key limitations include inability to distinguish different diseases with similar symptoms and underlying pathology(e.g., different causes of kidney failure).
  • Growing understanding of disease etiologies is improving classifications, especially for neurodegenerative disorders, lymphomas, and other conditions.
  • Accurate disease classification improves prognostic predictions for individual patients.
  • Current therapies are sometimes ineffective due to a lack of understanding of underlying disease drivers at a molecular level.

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