D115: Advanced Pathophysiology for the Advanced Practice Nurse (PCC2) OA

Correct answers are highlighted in green and marked with a check.

1. A pediatric patient is showing signs of failure to thrive. An advanced practice registered nurse (APRN) also notices the patient does not focus on objects. The parent is concerned about their child’s uncoordinated movement.

Which diagnosis should the APRN pursue?

A. Lesch-Nyhan syndrome

B. Lafora disease

C. Tay-Sachs disease  ✓

D. Rett syndrome

2. A couple experiences a miscarriage at 10 weeks. Genetic analysis of the abortus reveals trisomy 16. In a later pregnancy, their child is born alive but presents with developmental delays. A karyotype shows mosaic trisomy 16, with some cells having a normal karyotype and others having an extra chromosome 16.

What explains the survival of the second pregnancy to term compared to the first pregnancy?

A. The survival occurred because the extra chromosome was lost during development, leaving mostly normal cells.

B. The survival was due to chromosomal mosaics, which reduced the proportion of abnormal cells.  ✓

C. The survival was due to partial trisomy, since only a segment of chromosome 16 was duplicated.

D. Complete trisomy 16 is compatible with life, but the miscarriage was due to maternal factors.

3. A 40-year-old individual presents for evaluation of colorectal cancer risk. Their parent was diagnosed with colon cancer at age 55. Genetic testing of the parent revealed a silent genetic mutation.

What is the appropriate colorectal cancer screening strategy for the individual?

A. Do not recommend screening unless the individual tests positive for a pathogenic mutation on genetic testing

B. Delay colorectal cancer screening until age 50 since silent mutations are usually benign and do not increase risk

C. Refer for genetic counseling and testing first and then decide on screening based on results

D. Begin colonoscopy screening now (at age 40) due to family history regardless of the silent mutation  ✓

4. A 35-year-old male patient and his 33-year-old female partner present for genetic counseling before starting a family. The male partner has a known autosomal dominant condition and is a confirmed heterozygote. The female partner has no personal or family history of genetic disorders and normal genetic testing results. They are concerned about the risk of passing the condition on to their children and want guidance on family planning options.

What should the healthcare provider inform the couple regarding the genetic risk to their future children?

A. All children will inherit the disorder since one parent has a dominant mutation.

B. Each child has a 50% chance of inheriting the disorder, regardless of sex, since one parent has a dominant mutation.  ✓

C. No further testing or counseling is necessary unless the female partner is also a carrier for the same condition.

D. The recurrence risk is 25% because only one parent carries a single copy of the mutated gene.

5. A 55-year-old male has been admitted to the ICU after having a kidney transplant. As part of his post-operative medication regimen, he has been prescribed cyclosporin.

Which immune mechanism is targeted by this medication to support the success of the transplant?

A. Induction of apoptosis in natural killer (NK) cells infiltrating the graft

B. Inhibition of T-cell activation by blocking interleukin-2 transcription  ✓

C. Destruction of B cells producing donor-specific antibodies

D. Neutralization of complement activation at the transplant site

6. A 58-year-old patient presents with a fever, chills, fatigue, and a productive cough with yellow sputum that has lasted for six days. Upon examination, their temperature is 102 degrees Fahrenheit, respiratory rate is 24 per minute, and oxygen saturation is 92% on room air. A chest X-ray shows right lower lobe consolidation consistent with pneumonia. A sputum culture is pending.

Which pathological process explains the patient’s clinical presentation?

A. Autoimmune destruction of mature neutrophils

B. Bone marrow response to acute bacterial infection  ✓

C. Viral suppression of neutrophil production

D. Malignant proliferation of immature myeloid cells

7. A 32-year-old patient attends a visit two days after sustaining a dog bite on the lower leg with marked swelling, redness, warmth, pain, and purulent drainage at the wound site. A complete blood count (CBC) reveals leukocytosis with neutrophilia. Wound cultures are pending.

Which role does inflammation play in this patient’s immune response?

A. Inflammation is protective by containing pathogens and removing them via vascular, chemical, and cellular responses.  ✓

B. Inflammation takes several days to activate due to delays in the adaptive immune response.

C. Inflammation is a specific process that has a greater effect on extracellular pathogens, like bacteria.

D. Inflammation occurs as a side effect of bacteria damaging the vascular system, leading to swelling and fever.

8. A 55-year-old patient has come to the clinic with extraocular movement pain, burning, itching, and tearing of their left eye. On examination there are greasy scales along the lid margin and lashes, with excess oily secretion and foamy tears, dandruff of the scalp, and scaling of the brows, behind the ears, and at the base of the nose.

Which pathological mechanism is responsible for the patient’s clinical condition?

A. Impact of inflammatory cytokines on tear film osmolarity, which increases tear film evaporative loss, causing inflammation

B. Abnormal cell-mediated response to Staphylococcus aureus, ultimately resulting in lid margin inflammation

C. Reduced lipid secretion and higher tear film evaporation due to malfunction of the meibomian gland

D. Abnormal cell-mediated response to pathogens in the anterior lid margin surrounding the eyelashes and altered sebum composition  ✓

9. A 20-year-old female patient presents with complaints of throbbing headaches that are often preceded by visual and sensory disturbances, such as flashing lights and tingling in her hands. The headaches are accompanied by nausea, photophobia, and phonophobia. Neurological examination between episodes is normal. The team determines her symptoms to be associated with hormonal fluctuations in her cycle.

Which mechanism is likely responsible for her migraine headaches?

A. Estrogen withdrawal before and during menstruation  ✓

B. Progesterone withdrawal during the follicular phase

C. Increased testosterone during ovulation

D. Luteinizing hormone spike prior to ovulation

10. What role does genetic testing play in patient care?

A. Prevention of disease

B. Early detection  ✓

C. Eradication of symptoms

D. Curative treatment

11. A 56-year-old patient presents to the neurology clinic with complaints of progressive weakness in their right arm. On physical exam, the nurse practitioner notes increased muscle tone, exaggerated deep tendon reflexes, and a positive Babinski sign on the affected side. No fasciculations or muscle atrophy are noted. The patient denies sensory changes on review of systems.

Which pathophysiologic mechanism accurately explains the patient’s motor deficits?

A. Demyelination of peripheral motor nerves

B. Disruption of neuromuscular junction transmission

C. Lesion within the internal capsule of the corticospinal tract  ✓

D. Degeneration of anterior horn cells in the spinal cord

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