daisy was always unusually short for her age she was unable to conceive a child after marriage and upon visiting a doctor she was prescribed estrogen
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HESI Maternal Newborn

1. Daisy was always unusually short for her age. She was unable to conceive a child after marriage, and upon visiting a doctor, she was prescribed estrogen replacement therapy. Daisy is most likely suffering from:

Correct answer: C

Rationale: Daisy's symptoms of short stature and infertility, along with the prescription of estrogen replacement therapy, are indicative of Turner syndrome. Turner syndrome is a genetic condition in which a female is partially or completely missing one X chromosome. This results in short stature, infertility, and other physical characteristics. Phenylketonuria (PKU) is a metabolic disorder caused by a mutation in the gene responsible for the breakdown of the amino acid phenylalanine. Cystic fibrosis is a genetic disorder affecting the respiratory and digestive systems. Huntington's disease (HD) is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline.

2. What causes cystic fibrosis?

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.

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

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.

4. A newborn is 24 hours old, and a healthcare provider is caring for them. Which of the following laboratory findings should the healthcare provider report to the provider?

Correct answer: D

Rationale: The correct answer is D: WBC count 32,000/mm3. A WBC count of 32,000/mm3 is significantly elevated in a newborn and could indicate an infection, which needs immediate attention and intervention. High white blood cell counts in newborns can be concerning as they may suggest an ongoing infection or other underlying issues that require prompt medical evaluation and treatment. Choices A, B, and C are within normal ranges for a newborn and would not typically warrant immediate reporting to the provider. Hgb levels of 20 g/dL (Choice A) are high for newborns, but this is not as concerning as a significantly elevated WBC count. Bilirubin levels of 2 mg/dL (Choice B) are within normal limits for a newborn and do not indicate immediate issues. Platelet count of 200,000/mm3 (Choice C) is also within the normal range for a newborn and would not require immediate reporting.

5. Which of the following statements is a symptom of cystic fibrosis in children?

Correct answer: B

Rationale: The correct answer is B. Cystic fibrosis is a genetic disorder that causes the body to produce thick, sticky mucus. This mucus can clog the airways in the lungs and obstruct the pancreas, leading to severe respiratory and digestive problems. Choice A is incorrect because uncontrollable muscle movements and personality changes are not typical symptoms of cystic fibrosis. Choice C is incorrect because cystic fibrosis does not directly cause red blood cells to clump together and obstruct small blood vessels. Choice D is incorrect because cystic fibrosis primarily affects the respiratory and digestive systems, not the central nervous system.

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