is a fatal genetic neurologic disorder whose onset is in middle age
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1. Which of the following is a fatal genetic neurologic disorder whose onset is in middle age?

Correct answer: D

Rationale: Huntington's disease is a fatal genetic neurologic disorder characterized by progressive nerve cell degeneration in the brain. It typically manifests in middle age with symptoms such as involuntary movements, cognitive decline, and psychiatric disturbances. Tay-Sachs disease (Choice A) is a genetic disorder that primarily affects the nervous system in early childhood, not middle age. Duchenne muscular dystrophy (Choice B) is a genetic disorder that primarily affects muscle function and usually presents in early childhood. Hemophilia (Choice C) is a genetic disorder related to blood clotting, and its onset is not typically in middle age.

2. A client at 26 weeks gestation was informed this morning that she has an elevated alpha-fetoprotein (AFP) level. After the healthcare provider leaves the room, the client asks what she should do next. What information should the nurse provide?

Correct answer: B

Rationale: An elevated AFP level during pregnancy can indicate potential fetal anomalies. Further evaluation is necessary to confirm the findings and assess the need for additional interventions. Scheduling a sonogram is the appropriate next step as it can provide more definitive results and help identify any underlying issues. Choice A is incorrect because dismissing the elevated AFP level as a false reading without further investigation can lead to missing important information about the baby's health. Choice C is not the best immediate action, as scheduling a sonogram would provide more detailed information than just repeating the AFP test. Choice D is incorrect as discussing intrauterine surgical correction is premature at this stage and not typically indicated based solely on an elevated AFP level.

3. 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:

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.

4. Which field of biology studies heredity?

Correct answer: C

Rationale: Genetics is the branch of biology that focuses on the study of heredity and variation in organisms. Etiology (choice A) deals with the causes of diseases, not heredity. Ecology (choice B) is concerned with the relationships between organisms and their environment, not specifically heredity. Eugenics (choice D) is a controversial field that involves improving the genetic quality of the human population through selective breeding, which is different from the study of heredity itself.

5. A healthcare professional is caring for a client who is 14 weeks of gestation. At which of the following locations should the healthcare professional place the Doppler device when assessing the fetal heart rate?

Correct answer: A

Rationale: At 14 weeks of gestation, the uterus is still relatively low in the abdomen. Placing the Doppler midline 2 to 3 cm above the symphysis pubis is appropriate for assessing the fetal heart rate. This location allows for better detection of the fetal heart tones as the uterus is at a lower position during this stage of pregnancy. Placing the Doppler on the left upper abdomen would not be ideal at 14 weeks gestation as the uterus is not yet at that level. Placing it two fingerbreadths above the umbilicus or lateral at the xiphoid process would also not be accurate for locating the fetal heart rate at this stage of gestation.

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