Immunopathology and Genetic Disease

MODULE 2: IMMUNOPATHOLOGY AND GENETIC DISEASES

Introduction

Module 2 will focus on the inflammatory response that takes place within the body following invasion by foreign and harmful agents. Autoimmunity, autoimmune diseases, genetics, and genetic diseases will also be discussed.



The body is exposed to several conditions that result in damage (pollutants, sunlight, infectious agents) and damage from within (cancer). This damage can occur to a single cell or to multiple cells. When multiple cells become involved, this results in disease or death of the individual. The body, being a sophisticated machine, developed a multilevel system of interactive defense mechanisms: innate immunity, inflammatory response, and adaptive immunity.



Genetics is the study of biologic inheritance. An understanding of genetics is essential to the study of pathophysiology. Insight into the genetic basis of inherited disorders has been a growing area of research. Identifying genes related to disease has increased from fewer than 200 per year in the early 1990s to almost 3000 yearly in 2011. This can be credited to the discovery of the Human Genome and studying the human genome data.



A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes) (National Human Genome Research Institute, 2012).



Through research we are learning that most diseases have a genetic component. Some are caused by inherited mutations and present at birth, such as sickle cell disease, cystic fibrosis, and Tay-Sachs, while other are caused by mutations that occur throughout the life cycle. These mutations are not inherited but occur dues to some environmental exposure, such as cigarette smoke, and include many cancers and some forms of neurofibromatosis.



Most genetic disorders, however, are "multifactorial inheritance disorders," meaning they are caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors. Examples of such diseases include many commonly occurring diseases, such as heart disease and diabetes, which are present in many people in different populations around the world (National Human Genome Research Institute, 2018).



Objectives

Discuss the three mechanisms of defense.

Describe acute vs chronic inflammation.

Discuss active and passive immunity.

Identify major chromosomal abnormalities.

Differentiate between autosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance.

Discuss multifactorial inheritance.

Discuss the significance of gene mapping.

Additional Web sites

Genetic Disorders and Diseases: http://www(dot)youtube(dot)com/watch?v=8s4he3wLgkM

The Future of Genetics: http://www(dot)youtube(dot)com/watch?annotation_id=annotation_350396&feature=iv&src_vid=8s4he3wLgkM&v=tp0qw9gq9hQ

Discussion



Module 2

Discussion 1

Melissa, a 12-year-old girl with cystic fibrosis comes to the primary care office with complaints of increased cough and productive green sputum over the last week. She also complains of increasing shortness of breath. She denies sore throat or nasal congestion. On physical examination, her temperature is 101 and she has inspiratory wheezes bilaterally. Negative lymphadenopathy noted. Posterior pharynx is pink without exudate. BP 112/72 HR 96 RR 28. 1.



In cystic fibrosis, the airway microenvironment favors bacterial colonization. In a minimum of 150 words explain the pathophysiological reason for this occurrence.



Module 2: Discussion







Post your initial response by Wednesday at midnight. Respond to one student by Sunday at midnight. Both responses must be a minimum of 150 words, scholarly written, APA formatted, and referenced. A minimum of 2 references are required (other than your text). Refer to grading rubric for online discussion.



Special Guidance on APA formatting in Discussion Posts

APA formatting is required in discussion posts with the following two exceptions (due to limitations with the text editor in LIVE): double line space and indent 1/2 inch from the left margin. Discussion posts will NOT be evaluated on those two formatting requirements. All other APA formatting guidelines should be followed. For example, in-text citations must be formatted with the appropriate information and in the correct sequence (Author, year), reference list entries must include all appropriate information following guidelines for capitalization, italics, and be in the correct sequence. Refer to the APA Publication Manual 7th ed. for each source type's specific requirements. Please let your instructor know if you have any questions.



Hello please use the sample writing I shared with you in the previous paper. That is how my professor wants our papers to be written.

Thx