Nursing Elites

1. Rico is a man who has enlarged breasts and suffers from mild mental retardation. He has a problem learning languages, and his body produces less of the male sex hormone testosterone than normal males. Rico is most likely suffering from:

• A. Klinefelter syndrome.
• B. Tay-Sachs disease.
• C. Turner syndrome.
• D. Down syndrome.

Correct answer: A

Rationale: Rico's symptoms align with Klinefelter syndrome, which is characterized by an extra X chromosome in males (XXY). Enlarged breasts (gynecomastia), mild mental retardation, learning difficulties, and reduced testosterone production are common features of Klinefelter syndrome. Choice B, Tay-Sachs disease, is a genetic disorder that affects the nervous system and is not associated with the symptoms described. Choice C, Turner syndrome, occurs in females with a missing or partially missing X chromosome and does not fit Rico's profile. Choice D, Down syndrome, is caused by an extra copy of chromosome 21 and typically does not present with the symptoms mentioned for Rico.

2. According to a study in 2013 by van Gameren-Oosterom, individuals with Down syndrome:

• A. are unlikely to die from cardiovascular problems by middle age.
• B. have no specific characteristic features.
• C. show deficits in cognitive development.
• D. are likely to have only 46 chromosomes.

Correct answer: C

Rationale: The correct answer is C. According to a study in 2013 by van Gameren-Oosterom, individuals with Down syndrome often exhibit deficits in cognitive development. This is a common characteristic of Down syndrome, along with other health challenges. Choice A is incorrect because individuals with Down syndrome are at a higher risk of cardiovascular problems, contrary to being unlikely to die from them. Choice B is incorrect as Down syndrome is associated with specific characteristic features such as distinctive facial characteristics, making the statement that they have no specific features incorrect. Choice D is incorrect as individuals with Down syndrome have an extra copy of chromosome 21, resulting in a total of 47 chromosomes, not 46.

3. A healthcare provider is assessing a newborn immediately following a vaginal birth. For which of the following findings should the provider intervene?

• A. Molding
• B. Vernix Caseosa
• C. Acrocyanosis
• D. Sternal retractions

Correct answer: D

Rationale: Sternal retractions in a newborn indicate respiratory distress and require immediate intervention. This finding suggests the newborn is having difficulty breathing and needs prompt attention to ensure adequate oxygenation. Molding, the overlapping of fetal skull bones during birth, is a normal and expected process that does not require intervention. Vernix Caseosa, the protective white substance on the skin, and Acrocyanosis, the bluish discoloration of extremities, are both common and benign findings in newborns that do not necessitate immediate action. Therefore, the healthcare provider should focus on addressing sternal retractions to manage the respiratory distress effectively.

4. Which procedure is used to detect neural tube defects such as spina bifida and certain chromosomal abnormalities?

• A. Artificial insemination
• B. Amniocentesis
• C. Endometriosis
• D. Alpha-fetoprotein (AFP) assay

Correct answer: D

Rationale: The correct answer is the Alpha-fetoprotein (AFP) assay. This blood test measures the level of AFP in a pregnant woman's blood, aiding in the detection of neural tube defects and certain chromosomal abnormalities in the fetus. Choice A, artificial insemination, is a method used to facilitate fertilization and is not related to detecting fetal abnormalities. Choice B, amniocentesis, involves collecting amniotic fluid for genetic testing, not directly measuring AFP levels. Choice C, endometriosis, is a medical condition involving abnormal tissue growth and is not a procedure for detecting fetal abnormalities. Therefore, the Alpha-fetoprotein (AFP) assay is the most appropriate option for detecting neural tube defects such as spina bifida and certain chromosomal abnormalities.

5. What causes cystic fibrosis?

• A. Sex-linked abnormality.
• B. Abnormality in the 21st pair of chromosomes.
• C. Recessive gene.
• D. Single segment found only on the Y chromosome.

Correct answer: C

Rationale: Cystic fibrosis is a genetic disorder caused by inheriting two copies of a recessive gene, one from each parent. This means that both parents must carry at least one copy of the faulty gene for a child to inherit the condition. Choice A is incorrect because cystic fibrosis is not linked to the sex chromosomes. Choice B is incorrect as cystic fibrosis is not caused by an abnormality in the 21st pair of chromosomes but by a specific gene mutation. Choice D is also incorrect as cystic fibrosis is not related to the Y chromosome, which is specific to males.

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