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A 4-month-old infant has been diagnosed with a rare genetic disease called neonatal onset multisystem inflammatory disease (NOMID). This disease occurs through an autosomal-dominant inheritance pattern. The parents ask the nurse, 'Which of us passed this disease on to our child?' Which of the following is the nurse's best response?
- A. Only the female carries the gene.
- B. Only the father carries the gene.
- C. Either the mother or the father can carry the gene.
- D. Both the mother and the father have to be carriers.
Correct Answer: C
Rationale: The correct answer is C: Either the mother or the father can carry the gene. In an autosomal-dominant inheritance pattern, only one copy of the mutated gene is needed to express the disease. This means that either parent can pass on the disease gene to the child. Therefore, it is not necessary for both parents to be carriers for the child to inherit the disease. Choices A and B are incorrect because autosomal-dominant diseases do not depend on the gender of the parent carrying the gene. Choice D is incorrect as it implies that both parents must be carriers, which is not a requirement for autosomal-dominant inheritance.
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A nurse is educating a group about male infertility. What factor is most likely to affect sperm quality?
- A. Frequent exercise
- B. Use of mobile phones
- C. Exposure to high temperatures
- D. Dietary habits
Correct Answer: C
Rationale: The correct answer is C, exposure to high temperatures. Sperm quality can be significantly affected by high temperatures as heat can damage sperm production. Elevated scrotal temperatures can impair sperm production and motility. Frequent exercise (choice A) is generally beneficial for overall health, including reproductive function. The use of mobile phones (choice B) has not been definitively linked to male infertility. Dietary habits (choice D) can influence overall health but are not as directly linked to sperm quality as exposure to high temperatures.
A patient is being interviewed by the nurse. During the family history assessment, the patient reports having had relatives with cancer. Which is the nurse's best response?
- A. Complete a pedigree, noting the types of cancer and which relatives were affected.
- B. Ask whether the cancer was in male or female relatives.
- C. Determine whether the cancer reported in the family history is pertinent to the patient's personal medical history.
- D. Schedule a consult with a genetic counselor to further assess the patient's risk.
Correct Answer: A
Rationale: Correct Answer: A
Rationale:
1. Completing a pedigree allows for a visual representation of the family's health history.
2. Noting the types of cancer and affected relatives helps identify patterns and potential genetic risks.
3. This response demonstrates a proactive approach to understanding the patient's genetic predispositions.
Summary of other choices:
B: Asking about the gender of affected relatives does not provide as much detailed information about the types of cancer or specific family members affected.
C: Determining relevance to personal history is important, but a pedigree provides a broader picture for risk assessment.
D: Referring to a genetic counselor may be necessary but completing a pedigree first helps gather essential information for a more informed consultation.
A nurse is instructing a couple on timed intercourse to optimize fertility. What advice should the nurse give?
- A. Have intercourse daily throughout the menstrual cycle.
- B. Focus on the fertile window around ovulation.
- C. Avoid intercourse for a week before ovulation.
- D. Only have intercourse after confirming ovulation.
Correct Answer: B
Rationale: The correct answer is B because focusing on the fertile window around ovulation maximizes the chances of conception. Ovulation is the most fertile time, so timing intercourse during this period increases the likelihood of pregnancy. Having intercourse daily throughout the menstrual cycle (A) may not be necessary and could lead to fatigue. Avoiding intercourse for a week before ovulation (C) decreases the chances of conception as sperm can survive up to 5 days in the female reproductive tract. Only having intercourse after confirming ovulation (D) may miss the optimal window for conception.
What dietary recommendation should the nurse provide to a patient trying to conceive?
- A. Follow a high-protein diet to support fertility.
- B. Consume a variety of fruits, vegetables, and whole grains.
- C. Eliminate all sources of fat from the diet.
- D. Increase caffeine intake for better energy during ovulation.
Correct Answer: B
Rationale: The correct answer is B: Consume a variety of fruits, vegetables, and whole grains. This recommendation is based on the importance of a balanced and nutritious diet for overall health and fertility. Fruits, vegetables, and whole grains provide essential vitamins, minerals, and antioxidants that support reproductive health. High-protein diets (choice A) may be beneficial but should not be the sole focus. Eliminating all sources of fat (choice C) is not recommended as healthy fats are essential for hormone production. Increasing caffeine intake (choice D) can have negative effects on fertility. In summary, a diet rich in fruits, vegetables, and whole grains provides the necessary nutrients for optimal fertility.
A woman who is a carrier for sickle cell anemia is advised that if her baby has two recessive genes, the penetrance of the disease is 100%, but the expressivity is variable. Which of the following explanations will clarify this communication for the mother? All babies with 2 recessive sickle cell genes will:
- A. Develop painful vaso-occlusive crises during their first year of life.
- B. Exhibit at least some signs of the disease while in the neonatal nursery.
- C. Show some symptoms of the disease but the severity of the symptoms will be individual.
- D. Be diagnosed with sickle cell trait but will be healthy and disease-free throughout their lives.
Correct Answer: C
Rationale: Individuals with two recessive genes will have the disease, but symptom severity varies.