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You have been asked to see a 15-year-old girl who is being referred for evaluation of an ovarian mass. Her history is also significant for secondary amenorrhea, and physical examination shows signs of virilization. As you review her family history, what syndrome will you consider?
- A. Li-Fraumeni syndrome
- B. DICER-1 syndrome
- C. Turner syndrome
- D. Beckwith-Wiedemann syndrome
Correct Answer: B
Rationale: The correct answer is B: DICER-1 syndrome. This syndrome is associated with ovarian tumors, secondary amenorrhea, and signs of virilization due to androgen-secreting tumors. Li-Fraumeni syndrome (A) is characterized by multiple primary cancers but not specifically ovarian masses. Turner syndrome (C) presents with ovarian dysgenesis and primary amenorrhea. Beckwith-Wiedemann syndrome (D) is associated with overgrowth and abdominal wall defects, not ovarian masses. In this case, the presence of ovarian mass, secondary amenorrhea, and virilization point towards DICER-1 syndrome.
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A patient who is suspected of having acute viral hemorrhagic fever reveals history of tick bite. Which of the following is the most possible causative agent?
- A. Hantavirus
- B. Rift Valley virus
- C. Crimean Congo virus
- D. Marburg virus
Correct Answer: C
Rationale: The correct answer is C: Crimean Congo virus. This is the most likely causative agent of acute viral hemorrhagic fever following a tick bite due to its association with tick transmission. Crimean Congo virus is a tick-borne virus that causes severe hemorrhagic fever in humans. The other options, Hantavirus, Rift Valley virus, and Marburg virus, are not typically transmitted by ticks. Hantavirus is spread through rodent feces, Rift Valley virus is transmitted by mosquitoes, and Marburg virus is transmitted through direct contact with infected animals or their bodily fluids. Therefore, based on the history of tick bite, Crimean Congo virus is the most probable causative agent.
A 16-year-old female presents to the emergency room with a new complaint of chest pain. When performing a review of systems and physical examination, which of the following would substantially decrease your suspicion for a diagnosis of pulmonary embolism?
- A. Cough
- B. Fever
- C. Rib tenderness
- D. Shortness of breath
Correct Answer: C
Rationale: The correct answer is C: Rib tenderness. Rib tenderness is a symptom more commonly associated with musculoskeletal issues rather than pulmonary embolism. Pulmonary embolism typically presents with symptoms such as chest pain, shortness of breath, and sometimes cough. Fever is not a typical symptom of pulmonary embolism. Shortness of breath is a common symptom but not specific enough to substantially decrease suspicion for pulmonary embolism.
You are consulting on a 10-year-old male with severe persistent neutropenia, a history of recurrent infections, and warts. The rest of the peripheral blood count is normal. His mother also has neutropenia. Bone marrow examination shows a hypercellular marrow and retained myeloid cells with vacuolated cytoplasm. There are no abnormalities in the red cells or platelet precursors. Cytogenetics are 46XY. You start granulocyte colony stimulating factor therapy and the neutrophil count increases. A mutation in which of the following genes is most likely to have caused this familial inherited bone marrow failure syndrome?
- A. CXCR4
- B. ELANE
- C. GATA 2
- D. Mitochondrial DNA
Correct Answer: A
Rationale: The correct answer is A: CXCR4. In this case, the patient presents with severe neutropenia, recurrent infections, and warts, suggestive of WHIM syndrome, where CXCR4 mutations are often involved. CXCR4 plays a crucial role in immune cell trafficking and retention in the bone marrow. The hypercellular marrow and vacuolated myeloid cells are consistent with WHIM syndrome. The absence of abnormalities in red cells or platelet precursors rules out other syndromes. Mutations in ELANE are commonly associated with congenital neutropenia, not familial inherited bone marrow failure syndromes. GATA2 mutations are linked to familial myelodysplastic syndromes, not typically presenting with neutropenia and warts. Mitochondrial DNA mutations are more related to mitochondrial disorders, which usually manifest with multi-system involvement, not specific to bone marrow failure syndromes.
A patient's complete blood count (CBC) shows a hemoglobin of 19 g/dL and a hematocrit of 54%. Which question should the nurse ask to determine possible causes of this finding?
- A. Have you had a recent weight loss?
- B. Do you have any history of lung disease?
- C. Have you noticed any dark or bloody stools?
- D. What is your dietary intake of meats and protein?
Correct Answer: B
Rationale: The correct answer is B: Do you have any history of lung disease? A high hemoglobin and hematocrit can be indicative of chronic hypoxia, often seen in lung diseases like COPD. The nurse should ask about lung disease to explore the possibility of chronic hypoxia as the underlying cause. Choices A, C, and D are incorrect as they do not directly relate to the potential cause of elevated hemoglobin and hematocrit levels in this scenario.
A 2-month-old girl is found to have a small, hard mass on her scalp. The mass increases in size over the next 4 weeks. A biopsy is performed that confirms a diagnosis of embryonal rhabdomyosarcoma. You initiate chemotherapy with vincristine, dactinomycin, and cyclophosphamide. The child presents to clinic for day 1 of cycle 3 of chemotherapy, and the mass on her scalp is smaller. She is afebrile, absolute neutrophil count is 1,405 cells/mcL, platelet count is 154,000/mcL, and total bilirubin is 0.8 mg/dL. Her mother reports she looks very tired because her eyelids have been 'very droopy,' and she thinks she has a sore throat because her cry is hoarse. Her last bowel movement was 2 days ago. What is the most appropriate chemotherapy plan?
- A. Continue vincristine, dactinomycin, and cyclophosphamide at full dosage.
- B. Do not administer any chemotherapy; rhabdomyosarcoma is progressing and she needs different therapy.
- C. Administer dactinomycin and cyclophosphamide but hold the vincristine and reevaluate weekly. If the ptosis and hoarse cry resolve, vincristine can be resumed with a dose reduction and, if tolerated, re-escalated to the full dose in the future.
- D. Administer dactinomycin and cyclophosphamide but discontinue vincristine permanently.
Correct Answer: C
Rationale: The correct answer is C because the child is showing signs of vincristine-induced neurotoxicity, which can manifest as droopy eyelids (ptosis) and hoarse cry. Holding vincristine and reevaluating weekly allows for monitoring of symptoms. If resolved, vincristine can be resumed with a dose reduction to prevent further neurotoxicity. Dactinomycin and cyclophosphamide are continued to maintain treatment efficacy. Continuing full-dose vincristine (choice A) can worsen neurotoxicity. With rhabdomyosarcoma responding to the current regimen, stopping all chemotherapy (choice B) is not appropriate. Discontinuing vincristine permanently (choice D) may compromise the treatment plan.