Nursing Elites

1. Tim, a 27-year-old man, has unusually narrow shoulders, low muscle mass, and has no facial and body hair. His doctor recently prescribed testosterone replacement therapy to him. Tim is most likely suffering from:

• A. Phenylketonuria (PKU).
• B. Cystic fibrosis.
• C. Klinefelter syndrome.
• D. Huntington’s disease (HD).

Correct answer: C

Rationale: Tim's physical characteristics, such as narrow shoulders, low muscle mass, and lack of facial and body hair, are typical signs of Klinefelter syndrome, a genetic condition where males have an extra X chromosome (XXY). This leads to underdeveloped testes and reduced testosterone production, resulting in features like gynecomastia, sparse facial and body hair, and reduced muscle mass. Testosterone replacement therapy is commonly used to address the hormonal imbalance in individuals with Klinefelter syndrome. Phenylketonuria (PKU) is a metabolic disorder unrelated to the symptoms described in Tim's case. Cystic fibrosis is a genetic respiratory condition that does not present with the physical characteristics mentioned. Huntington’s disease (HD) is a neurodegenerative disorder primarily affecting motor function and cognition, not physical appearance and muscle mass.

2. Is Duchenne muscular dystrophy a sex-linked abnormality?

• A. TRUE
• B. FALSE
• C. Sometimes
• D. Always

Correct answer: A

Rationale: The correct answer is A: TRUE. Duchenne muscular dystrophy is an X-linked recessive disorder, primarily affecting males. This is due to the inheritance of the mutated gene on the X chromosome. Choices B, C, and D are incorrect because Duchenne muscular dystrophy is specifically classified as a sex-linked disorder affecting males due to the inheritance pattern.

3. According to a survey by Adhikari and Liu in the year 2013, at birth, women have:

• A. close to 100,000 ova.
• B. around 300,000 to 400,000 ova.
• C. around 100 to 200 ova.
• D. only 500 ova.

Correct answer: B

Rationale: Women are born with approximately 300,000 to 400,000 ova, which gradually decrease in number as they age. Choice A ('close to 100,000 ova.') is incorrect as the actual number is much higher. Choice C ('around 100 to 200 ova.') is incorrect as it underestimates the quantity significantly. Choice D ('only 500 ova.') is incorrect as it greatly underestimates the number of ova present at birth.

4. What is the purpose of amniocentesis?

• A. To induce abortion
• B. To detect genetic abnormalities in the fetus
• C. To determine the baby's gender
• D. To monitor fetal growth

Correct answer: B

Rationale: Amniocentesis is a diagnostic procedure used to detect genetic abnormalities in the fetus, such as chromosomal disorders like Down syndrome. It is not performed to induce abortion. The primary purpose of amniocentesis is to assess the genetic health of the fetus, not to determine the baby's gender (Choice C). While amniocentesis can provide information about the baby's health and development, it is not primarily used for monitoring fetal growth (Choice D). Therefore, the correct answer is B.

5. Which of the following statements is true of sickle-cell anemia?

• A. It is typically managed with treatments such as pain relief medications.
• B. It is caused by a mutation in the beta-globin gene.
• C. It leads to the obstruction of small blood vessels and decreased oxygen delivery.
• D. It is more prevalent in individuals of African, Mediterranean, Middle Eastern, and Indian descent.

Correct answer: C

Rationale: The correct answer is C. Sickle-cell anemia results from a mutation in the beta-globin gene, causing red blood cells to become sickle-shaped. These misshapen cells can obstruct small blood vessels, leading to reduced oxygen delivery to tissues. Choices A, B, and D are incorrect because sickle-cell anemia is typically managed with treatments such as pain relief medications, hydration, and in severe cases, blood transfusions. It is caused by a specific mutation in the beta-globin gene, not by the inability to metabolize phenylalanine. Additionally, sickle-cell anemia is more prevalent in individuals of African, Mediterranean, Middle Eastern, and Indian descent, not exclusive to any specific gender.

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