Pathophysiology & Pharmacology NSG520

Pathophysiology & Pharmacology NSG520

Chapter 5, Genes, Environment-Lifestyle, and Common Diseases Understanding Genetics of Common Diseases

Question 1 of 9

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Which multifactor component of hypertension would be influenced by genetics? 
Select all that apply. One, some, or all responses may be correct.

Sodium intake

Important environmental risk factors for hypertension include increased sodium intake that results from fluid retention and increased blood pressure. Sodium intake is a lifestyle or environmental factor.

Correct

Body weight

Obesity is associated with increased blood pressure. Obesity is influenced by both genetic factors and environment.

Correct

Renin-angiotensin

Studies implicate several genes or genetic factors are involved in the renin-angiotensin system in the causation of hypertension.

Physical activity

Decreased physical activity is a lifestyle risk factor for hypertension that is environmental factor instead of genetic factor.

Psychosocial stress

Environmental factors that increase psychosocial stress are related to hypertension in addition to genetic factors

Correct

Serum cholesterol

Genetic components are related to cholesterol levels that contribute to atherosclerosis and hypertension in addition to lifestyle or environmental factors of dietary intake of cholesterol.

Question 2 of 9

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Which statement would indicate a person understands the risk of cancer?

“Cancer risk is small without a family history of cancer.”

Although numerous cancer-causing genes are being isolated, environmental and lifestyle factors play an important role in cancer causing risks.

“Eliminating tobacco prevents most cancers.”

While tobacco use is estimated to account for one-third of all cancer cases in the United States, other factors must be considered as risk factors to reduce cancer risk.

Correct

“Lifestyle factors contribute to the risk of cancer.”

Although numerous cancer-causing genes are being isolated, environmental and lifestyle factors play an important role in causing cancer risks.

“Cancer death rates are low in the United States.”

Cancer is the second leading cause of death in the United States.

Question 3 of 9

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Which variable would be the 
most
 common finding in colorectal cancer cases?

Familial adenomatous polyposis

Inherited APC mutations cause rare familial adenomatous polyposis. Somatic mutations occur in 85% of colon cancer cases.

Hereditary nonpolyposis cancer

Hereditary nonpolyposis colorectal cancer accounts for 3% to 4% of colorectal cancer cases while somatic mutations account for 85%.

Correct

Somatic mutations

Somatic mutations are found in at least 85% of all colon tumors. Somatic mutations are noninherited mutations acquired during an individual’s lifetime.

Inherited APC mutations

Inherited APC mutations cause rare familial adenomatous polyposis, but somatic mutations are involved in most of all common colorectal cancers.

Question 4 of 9

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Which information would provide support for an environmental cause for type 1 diabetes?

Correct

Identical twin risk up to 70%

Absence of 100% concordant among identical twins indicates specific environmental causes (viral infections) contribute to the causation resulting in a possible genetic autoimmune response.

Obesity occurrence is low

Obesity is an indicator of both environmental and genetic factors; however, this is more likely to occur with type 2 diabetes.

Insulin is required for treatment

Regardless of cause, insulin is not produced by the pancreas with type 1 diabetes. Individuals with type 1 diabetes must receive exogenous insulin to survive; however, this does not support an environmental cause.

Evidence of autoimmune disease

Variation in genes associated with type 1 diabetes is also found with several other autoimmune diseases, which include systemic lupus erythematosus, rheumatoid arthritis, and autoimmune thyroid disease, providing support for a genetic cause.

Question 5 of 9

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Which factor would increase a risk for obesity?

Increased leptin hormone serum levels

Clinical trials using recombinant leptin have demonstrated moderate weight loss in a subset of obese individuals.

Correct

Homozygosity of FTO gene variant

Recent evidence identifies the FTO variant is part of an enhancer that binds to the IRX gene and is involved in regulation of fat mass.

Adoption into a family with obesity

Four adoption studies showed that the body weights of adopted individuals correlated significantly with their natural parents’ body weights but not with those of their adoptive parents.

The presence of the MC4R gene

Mutations in the gene that encodes MC4R have been found in 3% to 5% of severely obese individuals rather than the just the presence of a gene.

Question 6 of 9

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Which genetic effect from alcohol would increase the risk of alcoholism?

Lightheaded feeling

A lightheaded feeling results from an allele of the ALDH2 gene increasing acetaldehyde after alcohol consumption. This is often perceived as a negative effect that reduces the risk of alcoholism.

Warmth from flushing of the skin

Alcohol consumption will result in an accumulation of acetaldehyde when an allele of the ALDH2 gene is present. This contributes to facial flushing that may reduce repeated use of alcohol.

Increased heart rate

An allele of the ALDH2 gene results in excessive accumulation of acetaldehyde when consuming alcohol, and the person experiences heart palpitations (fast beating heart), reducing the risk of alcohol use disorder from unpleasant effects.

Correct

Sedative effect

Several other genes are associated with susceptibility to alcohol addiction, including genes that encode components of gamma aminobutyric acid (GABA) receptors that exerts a calming effect. Alcohol is shown to increase GABA release, and allelic variation in GABA receptor genes modulates this effect.

Question 7 of 9

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Which information would be accurate about late-onset Alzheimer disease (AD)?

Two altered alleles are required for AD.

Studies conducted in diverse populations show that persons who have one copy of the ε4 allele variation may develop AD.

Correct

Some older adults with altered alleles do not have AD.

Despite the strong association between ε4 and AD, many who are homozygous for ε4 remain free of AD, even at advanced age.

Genetic risks are similar in all populations.

The risk for AD varies somewhat by population, with higher ε4-associated risks in Europeans and Japanese and relatively lower risks in Hispanics and Blacks.

Risk assessment is determined by one gene mutation.

Although late-onset AD is an allelic variation in the apolipoprotein E (APOE) locus, recent studies reveal that at least 20 additional genes are associated with AD.

Question 8 of 9

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Which patient information would indicate the 
highest
 risk for schizophrenia?

Adoption by parent with schizophrenia

Adoptions studies find a similar risk when raised by a parent with or without schizophrenia. The risk for schizophrenia occurs when the birth parent has schizophrenia.

Report of mood swings

Mood swings alone indicate a risk for bipolar mood disorder without additional signs of schizophrenia that may include delusions, hallucinations, retreat from reality, and bizarre, withdrawn, or inappropriate behavior.

Notations in medical history of split personality

A spilt personality is not a description of schizophrenia. Delusions, hallucinations, retreat from reality, and bizarre, withdrawn, or inappropriate behaviors describe a risk for schizophrenia.

Correct

Maternal grandmother had schizophrenia

Although risks decrease when the affected family member is a second relative, the genetic risk for schizophrenia is higher than the general population.

Question 9 of 9

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The person declines teaching about of cardiac disease prevention stating that this is an uncontrollable family disease. Which information would accurately describe the risk of cardiac disease?

“Prevention is more challenging with a family history.”

Genetic studies support effective prevention and treatment of the genetic diseases that cluster in families. The nurse would provide rationale for efforts to prevent cardiac disease.

“Genetic risks may guide treatment of illness.”

Early screening for disease is supported when genetic risks are identified with a prevention focus instead of waiting for treatment. The nurse would emphasize cardiac disease prevention.

“Heart disease has a high genetic component.”

Heart disease has both genetic and environmental/lifestyle components. The nurse would respond with recognition of lifestyle modifications to prevent cardiac disease.

Correct

“Lifestyle modifications often extend years of life.”

The nurse will offer information to support prevention of cardiac disease. Those with a family history of heart disease can often add many years of productive living with relatively minor lifestyle alterations. Chapter 5, Genes, Environment-Lifestyle, and Common Diseases Understanding Genetics of Common Diseases

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