PATHOPHYSIOLOGY TEST 2

b

Which is the primary function of genes (the genetic code)?

Question 1Answer

a.

Determining which diseases an individual will have.

b.

Providing the instructions for producing proteins in the body.

c.

Coordinating basic body functions such as temperature regulation.

d.

Pre-determining how long an individual will live.

a

Which is true regarding the structure and function of chromosomes?

Question 2Answer

a.

Composed of double-stranded DNA which contains genes.

b.

Each chromosome has a protective tip on each end known as a histone.

c.

Each human somatic cell has 46 pairs of chromosomes.

d.

Of the total number of chromosomes only one is a sex chromosome.

d

Which best describes a person's genetic phenotype?

Question 3Answer

a.

Genetic make-up of an individual.

b.

Genetic changes that occur with aging.

c.

Genetic foundation for disease.

d.

Traits that are observable of apparent.

a

Which is defined as "the ability of a gene to express a mutation?"

Question 4Answer

a.

Penetrance.

b.

Dominance.

c.

Expressivity.

d.

Allele.

d

Which involves multiple alleles, or series of genes, at different loci (locations) affecting phenotype (the way genes are expressed)?

Question 5Answer

a.

Sex-linked disorders.

b.

Non-disjunction disorders.

c.

Mitochondrial disease.

d.

Polygenic inheritance.

d

Which is best described as "disease or physical abnormalities that are present at birth?"

Question 6Answer

a.

Epigenetic disorders.

b.

Mitochondrial disorders.

c.

Polygenic disorders.

d.

Congenital disorders.

a,b,c,d,e

Which may function as teratogens that can cause damage to a developing embryo or fetus? (Select all that Apply)

Question 7Answer

a.

Environmental chemicals.

b.

Alcohol.

c.

Pathogens.

d.

Drugs.

e.

Maternal infections.

b

Which is a characteristic of sickle cell disease (SCD)?

Question 8Answer

a.

Is a polygenic gene disorder.

b.

Hemolysis of red blood cells.

c.

Inhibition of hemoglobin S formation.

d.

Increased red blood cell lifespan.

b

Which is a characteristic of down syndrome?

Question 9Answer

a.

Missing copy of chromosome 21.

b.

An extra copy of chromosome 21.

c.

Missing copy of chromosome 18.

d.

An extra copy of chromosome 18.

b,c,d,e

Which are potential clinical features of down syndrome? (Select all that Apply)

Question 10Answer

a.

Small tongue.

b.

Single palmer crease.

c.

Increased risk for development of leukemia.

d.

Increased risk for congenital heart disease.

e.

Slanted eyes.

congenital disorders

A gene-environment interaction that occurs during fetal development.

mosaicism

A combination of normal cell and cell with altered chromosomes—phenotype will be variable.

autsomes

all chromosomes that are not sex chromosomes

genes

A distinct portion of DNA that codes for the production of a specific protein or proteins.

genotype

A person’s genetic make-up.

phenotype

Traits that are apparent or observable.

epigenetic inheritance

Change in gene expression without mutations in the genes.

mitosis

Nuclear division that results in two identical daughter cells with a diploid number of chromosomes.

meiosis

Cell division that results in production of daughter cells that are gametes—with a haploid number of chromosomes.

polygenic disorders

Multiple genetic alleles and the environment in combination contribute to an alteration in phenotype.

gametes

A mature germ cell with a haploid number of chromosomes—a sperm or an egg.

germ line mutation

A genetic mutation inherited from parents.

y-linked

Uncommon type of hereditary disease that can only be passed from father to son.

autosomal dominant

One mutated autosome in each cell is sufficient for a person to be affected.   May be inherited or may result from a new mutation.

x-linked dominant

In females and males, one mutated X chromosome in each cell is sufficient for a person to be affected.  Fathers cannot pass these traits on to their sons.

mitochondrial

Only females can pass these mutations on to their offspring as only egg cells pass this DNA on.

autosomal recessive

The parents of the affected each carry a copy of the defective autosomal gene (but do not show signs of the disorder).  The offspring must be homozygous for the gene in order to manifest the condition.

x-linked recessive

In males, one altered copy of the sex chromosome is enough to cause a condition.  In females, a mutation would have to occur in both copies of the gene to cause a disorder.

co-dominant

Two different alleles are expressed and influence the genetic trait or determine the characteristics of the genetic condition.

a,d,e

Which are characteristics of sickle cell anemia? (Select all that Apply)

Question 4Select one or more:

a.

Alteration in the phenotype of red blood cells (RBCs).

b.

Disorder of polygenic origin.

c.

Women are only carriers and do not express the disorder.

d.

Significantly decreases life expectancy

e.

Red blood cell (RBC) lifespan decreased significantly.

a,b,c,e

Which are potential triggers for sickle cell crisis?  (Select all that Apply)

Question 5Select one or more:

a.

Pregnancy

b.

Infection

c.

Extreme fatigue

d.

Metabolic alkalosis

e.

Stress and anxiety

c

Which change in lab values would be anticipated in the patient with sickle cell crisis?

Question 6Select one:

a.

Elevation of the Hgb and Hct.

b.

Decrease in liver enzymes and bilirubin.

c.

Elevation of the WBC count.

d.

Increased prothrombin time (PT) and INR.

c

What information has high priority when educating a patient with sickle cell disease?

Question 7Select one:

a.

Information about hydroxyurea, a medication used for treatment.

b.

Importance of prenatal screening when making reproductive decisions.

c.

Methods for avoiding factors that precipitate sickling and crisis.

d.

Information about drugs that may be used for pain control.

a

What is unique about the mosaic form of Down Syndrome?

Question 8Select one:

a.

Highly variable phenotypic expression.

b.

Trisomy of chromosome 21 in all human cells.

c.

Inheritable mutation of chromosome 21.

d.

Monosomy of chromosome 21.

a,b,c,e

Which are potential consequences of trisomy 21 (Down Syndrome)? (Select all that Apply)

Question 9Select one or more:

a.

Cardiac defects.

b.

Increased infection risks.

c.

Mental retardation.

d.

Anencephaly.

e.

Visual impairment.

b

Which maternal infection is commonly associated with potential for development of congenital anomalies?

Question 10Select one:

a.

Influenza virus.

b.

Varicella virus.

c.

MRSA.

d.

Oral Candida.

c

Which is a characteristic of developmental disorders?

Question 11Select one:

a.

Autosomal dominant pattern of inheritance.

b.

Not influenced by environmental factors.

c.

Occur after conception.

d.

Always lead to spontaneous abortion.

cancer

Highly invasive and destructive neoplasms.

differentiation

Orderly process of cellular maturation to achieve a specific function.

carcinoma in situ

Carcinoma confined to the epithelium that have not yet penetrated the basement membrane.

metastasis

When neoplasms spread to distant sites, often by way of the lymphatics or blood vessels.

seeding

A form of direct extension in which neoplastic proliferation occurs within peritoneal and/or pleural cavities surrounding the affected tissue.a

anaplasia

Loss of cell differentiation and therefore the loss of cell function.

proto-oncogenes

“Normal” genes in the body with a vital role in regulating cellular function

cachexia

“Normal” genes in the body with a vital role in regulating cellular function

neoplasms

Irreversible deviant cellular developments.

proliferation

The generation of new, daughter cells divided from progenitor (parent) cells. 

carcinogen

A known cancer-causing agent

autonomy

Unregulated proliferation of a neoplasm.

c

Which gene category, when mutated, will affect the cell’s ability to encode for the proteins involved in cell growth or regulation?

Question 2Select one:

a.

Carcinogens.

b.

Mutator genes.

c.

Proto-oncogenes.

d.

Tumor Suppressor genes.

b

Which characteristic of neoplasm development allows tumor cells to establish a nutrient network to support continued over-proliferation?

Question 3Select one:

a.

Adherence.

b.

Angiogenesis.

c.

Enzyme secretion.

d.

Seeding.

a,b,d,e

Which factors may contribute to the development of malnutrition associated with cancer? (Select all that Apply)

Question 4Select one or more:

a.

Nausea related to analgesic use.

b.

Taste changes associated with radiation therapy.

c.

Decreased rate of metabolism associated with neoplasia.

d.

Local tumor effects (Gi tract impingement e.g.)

e.

CNS mediated early satiety.

a,c,d

Which factors may contribute to hypercoagulability associated with cancer? (Select all that Apply)

Question 5Select one or more:

a.

Endothelial injury related to chemotherapy.

b.

Suppression of the inflammatory response. 

c.

Deficiency of protein C and S.

d.

Tumor secretion of pro-coagulant factors.

e.

Decreased viscosity of blood.

c

Which is a potential consequence of tumor lysis syndrome?

Question 6Select one:

a.

Liver failure.

b.

Hypercalcemia.

c.

Hyperkalemia.

d.

Cerebral edema.

a

What is a potential manifestation of the oncologic emergency SIADH?

Question 7Select one:

a.

Confusion.

b.

Polyuria.

c.

Hypernatremia.

d.

Neutrophilia.

b

Which may be a promoter of cancer cell growth?

Question 8Select one:

a.

Malnutrition.

b.

Hormones such as estrogen.

c.

Antioxidants such as vitamin E.

d.

Dehydration.

a,b,c,e

Which are mechanisms involved in the spread of cancer? (Select all that Apply)

Question 9Select one or more:

a.

Seeding of cancer cells in the peritoneal cavity.

b.

Utilization of the lymph and blood systems.

c.

Local invasion of surrounding tissues.

d.

Inhibition of angiogenesis.

e.

Enzyme degradation of membranes

b,e

Which are characteristics of a malignant neoplasm?  (Select all that Apply)

Question 10Select one or more:

a.

Effective cell to cell communication.

b.

Rapid angiogenesis.

c.

Evade immune system recognition.

d.

Decrease host metabolic rate.

e.

Increased motility and loss of cohesion.

c

Lung cancer is highly tropic to which organ or organ system?

Question 11Select one:

a.

The thyroid gland.

b.

The reproductive organs.

c.

The liver.

d.

The cardiovascular system.

a

Which lung cancer type carries the highest mortality risk?

Question 12Select one:

a.

Small cell carcinoma.

b.

Squamous cell carcinoma.

c.

Adenocarcinoma.

d.

Large cell carcinoma.

f

Women are more likely than men to develop cancer at some point during their lifespan.

Question 13Select one:

True

False

f

Most cancer is the result of genetic mutations that occur during fetal development.

Question 14Select one:

True

False

t

Aging is the most significant risk factor for the development of most cancers.

Question 15Select one:

True

False

t

Inactivation/inhibition of the P53 gene is associated with over ½ of human cancers.

Question 16Select one:

True

False

t

Obesity is the first link in the “chain of risk” for development of cancer.

Question 17Select one:

True

False

t

Hormones like insulin and leptin may be promoters of cancer growth.

Question 18Select one:

True

False

t

Some potential manifestations of cancer are caused by an immune response to the cancer cells.

Question 19Select one:

True

False

t

Tumors increase metabolic demand and “steal” nutrients, potentially leading to cachexia.

Question 20Select one:

True

False

f

Virchow’s triad is a combination of factors that decrease risk for clot formation.

Question 21Select one:

True

False

t

Unrepaired gene mutation and malfunction is always involved in the development of cancer.

Question 22Select one:

True

False

resident flora

Microorganisms that live on or within the body in non-sterile areas.

pyogenic

Capable of inducing fever.

virulence

The potency of a pathogen AEB the number of disease cases compared with the number of people exposed to the pathogen.

pathogenicity

Qualities that promote the development of disease.

opportunistic pathogen

Pathogens that cause infection/disease only when the host is compromised in some way. 

superinfection

An infection that presents in addition to a primary infection, often in a compromised host.

anaerobe

Bacteria that do not require oxygen for growth and sustained life.a

pathogen

A disease producing microbe.

antigenicity

The degree to which a pathogen is viewed by the host immune system as foreign.

igG

The most abundant, only antibody that can cross the placenta, providing passive immunity to the fetus

iga

Provides passive immunity to the newborn through breastmilk.  Protects mucous membrane lined structures.

igm

The first antibody produced by the newborn.

igd

involved in the binding of antigen and stimulation of B cell differentiation into effector cells.

ige

Found on cell surfaces of mast cells and basophils. Involved with triggering the release of chemical mediators that participate in the inflammatory and allergic response.

b

Which is a mechanism for bacterial proliferation and initiation of an infectious process?

Question 3Select one:

a.

Impaired bacterial cell communication.

b.

Quorum Sensing.

c.

Bacterial stimulation of neutrophil production.

d.

Bacterial apoptosis.

b

Which is an example of a mechanism for achieving “active” adaptive immunity?

Question 4Select one:

a.

A fetus receiving maternal antibodies by way of the placenta.

b.

The development of antibodies after receiving a vaccination for a disease.

c.

Transfer of antibodies to a baby via the breast milk.

d.

Receiving antibodies through the administration of immune gamma globulin.

c

Which are characteristics of a Type II hypersensitivity reaction?

Question 5Select one:

a.

IgE mediated, involves degranulation of mast cells and basophils.

b.

T lymphocyte mediated, includes delayed hypersensitivity reactions.

c.

IgG or IgM mediated, involves a cytotoxic reaction to specific, “targeted,” tissues/cells.

d.

Immune complex mediated, involves depositing of antigen-antibody complexes into tissues.

a,c,d

Which tissues are most sensitive to changes related to mast cell degranulation that occurs with IgE mediated anaphylaxis? (Select all that Apply)

Question 6Select one or more:

a.

The skin and mucous membranes.

b.

The central nervous system.

c.

The respiratory tract.

d.

The gastrointestinal tract.

e.

The reproductive organs.

b

Which assessment findings are characteristic of IgE mediated anaphylaxis?

Question 7Select one:

a.

Nasal congestion and sinus pressure.

b.

Urticaria and shortness of breath.

c.

Urinary retention and hypertension.

d.

Itchy, watery, reddened eyes.

d

Which is the most essential element of effective treatment of anaphylaxis?

Question 8Select one:

a.

The administration of Isotonic IV fluids.

b.

Administration of nebulized bronchodilators.

c.

Delivery of supplemental oxygen.

d.

Early administration of epinephrine.

d

Which link in the chain of infection is broken by vigilant handwashing?

Question 9Select one:

a.

Reservoir.

b.

Host.

c.

Portal of entry.

d.

Mode of transmission.

t

MHC molecules play an important role in the immune system identification of self.

Question 10Select one:

True

False

f

The innate immune response is specific and takes time several days to respond. 

Question 11Select one:

True

False

t

Eosinophils are cells capable of releasing histamine during an allergic response. 

Question 12Select one:

True

False

f

Monocytes differentiate into B and T lymphocytes.

Question 13Select one:

True

False

t

The innate immune system and adaptive immune system work together to respond to a wide range of pathogenic invaders.

Question 14Select one:

True

False

t

B Lymphocytes differentiate into antibody secreting plasma cells.

Question 15Select one:

True

False

f

Cytotoxic T cells (CD8) are affected by the human immunodeficiency virus (HIV).

Question 16Select one:

True

False

t

The herpes simplex virus can be latent, emerging during periods of stress.

Question 17Select one:

True

False