NUR180 Pathophysiology Exam 1

What is a gene

A specific arrangement of nucleotide bases that carries a code for constructing proteins

Which statement correctly compares somatic cells and gametes

Somatic cells are diploid with 46 chromosomes, while gametes are haploid with 23 chromosomes

What is a mutation

An inherited alteration in the sequence of a gene

What is aneuploidy

A chromosome number that is not a multiple of 23

What is trisomy

The presence of three copies of one chromosome

What is monosomy

The presence of only one copy of a chromosome

Which structural abnormality involves a missing chromosome segment

Deletion

Which structural abnormality involves an extra copy of a chromosome segment

Duplication

Which structural abnormality transfers material from one chromosome to another

Translocation

Which structural abnormality occurs when a chromosome fragment reverses and reattaches

Inversion

Which chromosomal abnormality causes Down syndrome

Trisomy 21

What is the genome

The collection of all an organism's genes

Which description applies to human somatic cells

They are diploid, contain 46 chromosomes, and form through mitosis

Which description applies to human gametes

They are haploid, contain 23 chromosomes, and form through meiosis

What is a chromosomal deletion

A portion of a chromosome is missing

What is a chromosomal duplication

A chromosome portion is repeated, producing extra genetic material

What is a chromosomal translocation

A portion of one chromosome is transferred to another chromosome

What is a chromosomal inversion

A chromosome segment breaks off, reverses, and reattaches

Which findings are associated with Down syndrome

Intellectual disability, epicanthal folds, poor muscle tone, and short stature

Which factor increases the risk of Down syndrome

Maternal age above 35

Which karyotype is associated with Turner syndrome

45, X

Which findings are associated with Turner syndrome

Underdeveloped ovaries, short stature, webbed neck, and edema

Which karyotype is associated with Klinefelter syndrome

47, XXY

Which findings are associated with Klinefelter syndrome

Gynecomastia, small testes, sparse body hair, and long limbs

What causes cri du chat syndrome

Deletion of the short arm of chromosome 5

What is genotype

The composition of genes at a given locus

What is phenotype

The outward appearance resulting from genotype and environment

What does homozygous mean

Paired loci contain identical genes

What does heterozygous mean

Paired loci contain different genes

What is a carrier

A person who is heterozygous for a recessive trait and does not manifest it

What is the expected risk to each child when one parent has an autosomal dominant disease and the other is normal

50%

What is the recurrence risk when both parents carry an autosomal recessive disease

25%

Which disorders are examples of autosomal recessive inheritance

Cystic fibrosis, sickle cell anemia, and Tay-Sachs disease

Which pattern characterizes X-linked inheritance

The trait is never transmitted from father to son

What happens to an X-linked gene from an affected father

It is passed to all his daughters

Which disorders are examples of X-linked inheritance

Hemophilia A, Duchenne muscular dystrophy, and color blindness

What is cellular adaptation

A reversible response to physiologic or pathologic changes

What is atrophy

A decrease in cell size

What is hypertrophy

An increase in cell size

What is hyperplasia

An increase in the number of cells

What is metaplasia

Replacement of one cell type by another, frequently less differentiated type

What is dysplasia

Deranged cellular growth in which cells vary in size, shape, and organization

Why is dysplasia clinically important

It may be precancerous and is more likely to cause cancer

What is the most common cause of cellular injury

Hypoxic injury

What is ischemia

Reduced blood supply

What is anoxia

A total lack of oxygen caused by obstruction

What is ischemia-reperfusion injury

Additional injury caused when blood flow and oxygen return to ischemic tissue

What causes cellular damage during reperfusion

Reactive oxygen radicals

What are xenobiotics

Compounds with toxic, mutagenic, or carcinogenic properties

What is an asphyxial injury

An injury caused by failure of cells to receive or use oxygen

What is the most common chemical asphyxiant

Carbon monoxide

How does carbon monoxide produce hypoxic injury

Its affinity for hemoglobin is 300 times greater than oxygen's affinity

Which findings are associated with carbon monoxide poisoning

Headache, tinnitus, confusion, nausea, vomiting, and weakness

What are the two major forms of cell death

Apoptosis and necrosis

What is apoptosis

Regulated or programmed cellular death

What is necrosis

Pathologic cell death caused by injury

What are the four major forms of necrosis

Coagulative, liquefactive, caseous, and fatty

What is the first line of immune defense

Innate immunity involving physical, mechanical, and biochemical barriers

What is the second line of immune defense

Inflammation

What is the third line of immune defense

Adaptive immunity

What are the local manifestations of inflammation

Redness, heat, swelling, pain, and loss of function

Which plasma protein systems support inflammation

Complement, clotting, and kinin systems

What does the complement system do

Produces inflammation, lyses foreign cells, and increases phagocytosis

What is opsonization

Coating antigens so macrophages engulf and clear them more efficiently

What are cytokines

Small signaling proteins that affect the behavior of other cells

What do chemokines do

Attract leukocytes to sites of inflammation

Which cytokines produce fever and the acute-phase response

IL-1, IL-6, and TNF

How do mast cells initiate inflammation

By releasing histamine and chemotactic factors

Which cells are the most important phagocytes

Neutrophils and macrophages

What is margination

Adherence of neutrophils to endothelial cells

What is diapedesis

Movement of cells through interendothelial junctions

What is the correct sequence of phagocytosis

Recognition and adherence, engulfment, lysosomal fusion, and pathogen destruction

How long does acute inflammation usually last

8 to 10 days

When does chronic inflammation develop

When the acute inflammatory response is inadequate

Which findings characterize chronic inflammation

Lymphocyte and macrophage infiltration with granuloma and giant-cell formation

What occurs during phase I of wound healing

Hemostasis, clot formation, and platelet degranulation

What occurs during phase II of wound healing

Inflammation with cytokine release and leukocyte infiltration

What occurs during phase III of wound healing

Proliferation and new tissue formation

What occurs during phase IV of wound healing

Remodeling and maturation of scar tissue

What is regeneration

Return of injured tissue to its original structure and function

What is repair

Replacement of destroyed tissue with scar tissue

What is dehiscence

A wound pulling apart at the suture line

What is evisceration

Opening of a wound with extrusion of tissue and organs

What is adaptive immunity

Specific, long-lived protection that develops after barriers are compromised and inflammation is activated

How does adaptive immunity differ from inflammation

It is inducible, specific, long-lived, and has memory

What are T cells responsible for

Cell-mediated immunity

What are B cells responsible for

Humoral immunity mediated by antibodies

What characterizes active immunity

It develops after antigen exposure and is long-lived

What characterizes passive immunity

Preformed antibodies or T cells are received and protection is temporary

What is the relationship between antigens and immunogens

All immunogens are antigens, but not all antigens are immunogens

What happens during B-cell clonal selection

A B cell binds its antigen and differentiates into plasma and memory cells

What do plasma cells do

Secrete immunoglobulins

What do T-helper cells do

Activate B cells, macrophages, and T-cytotoxic cells

What do T-cytotoxic cells attack

Virus-infected and malignant cells

Which immunoglobulin is most abundant in circulation and crosses the placenta

IgG

Which immunoglobulin predominates in secretions and protects mucosal tissues

IgA

Which immunoglobulin is produced first during an initial immune response

IgM

Which immunoglobulin is associated with allergies and parasitic infections

IgE

What characterizes the secondary immune response

It is faster and produces more IgG because of memory cells

What is a hypersensitivity reaction

An altered immune response to an antigen that damages the host