The mean cell volume of the patient is 90 fl and the reticulocyte production index is low. Which of the following is the most possible cause of anemia in this patient?
- A. Thalassemia
- B. Vitamin B12 deficiency
- C. Aplastic anemia
- D. Sideroblastic anemia
Correct Answer: C
Rationale: Rationale: A low reticulocyte production index indicates decreased bone marrow response to anemia. Aplastic anemia is characterized by bone marrow failure leading to pancytopenia, causing anemia. Thalassemia results in microcytic anemia, not macrocytic. Vitamin B12 deficiency causes macrocytic anemia due to impaired DNA synthesis. Sideroblastic anemia leads to microcytic anemia due to defective heme synthesis. Therefore, the most likely cause of anemia in this patient with a low reticulocyte production index and normal mean cell volume is aplastic anemia.
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Koilonychias is a specific feature of
- A. Hemolytic anemia
- B. Sickle cell disease
- C. Thalassemia major
- D. Iron deficiency anemia
Correct Answer: D
Rationale: Step-by-step rationale for why the correct answer is D (Iron deficiency anemia):
1. Koilonychias is characterized by spoon-shaped nails, a classic sign of iron deficiency anemia due to changes in nail structure.
2. Iron deficiency leads to decreased production of keratin, causing nail deformities like koilonychias.
3. Hemolytic anemia (choice A) and Sickle cell disease (choice B) are not typically associated with koilonychias.
4. Thalassemia major (choice C) can cause nail changes, but koilonychias is more commonly seen in iron deficiency anemia.
A 10-year-old girl is a long-term survivor of type II pleuropulmonary blastoma (PPB). You suspect she has a cancer predisposition syndrome and perform genetic testing, which confirms she has DICER1 syndrome. Which other cancer is she predisposed to?
- A. Papillary thyroid cancer
- B. Medullary thyroid cancer
- C. Pheochromocytoma
- D. Renal cell carcinoma
Correct Answer: A
Rationale: The correct answer is A: Papillary thyroid cancer. Individuals with DICER1 syndrome are at increased risk for developing various tumors, including papillary thyroid cancer. This is due to the role of DICER1 gene in regulating cell growth and division. The other choices, B (medullary thyroid cancer), C (pheochromocytoma), and D (renal cell carcinoma), are not typically associated with DICER1 syndrome. Medullary thyroid cancer is commonly linked to RET gene mutations, pheochromocytoma to genes such as SDHB, SDHD, and VHL, and renal cell carcinoma to mutations in genes like VHL and MET.
An infant is born with a 7 cm × 6 cm lesion over the upper extremity from the elbow to the shoulder. The lesion is indurated and purpuric, with some petechiae around the edges. No other areas of petechiae are noted on the skin. The infant is doing well without other systemic problems. i were 9 and 9. You are called by the pediatric nurse practitioner to the NICU. What is the most appropriate next step?
- A. Do nothing because the infant is doing well and had good Apgars.
- B. Obtain an ultrasound for more information about the lesion.
- C. Obtain an MRI to assess the extent of the lesion.
- D. Obtain labs, including a CBC with platelet count and fibrinogen.
Correct Answer: D
Rationale: The correct next step is D: Obtain labs, including a CBC with platelet count and fibrinogen. This is the most appropriate action because the infant presents with an indurated and purpuric lesion with petechiae, suggesting a possible coagulation disorder. Labs can help assess for any underlying hematologic abnormalities.
Choice A is incorrect because it is important to investigate further given the concerning presentation.
Choice B is not the best next step as an ultrasound would not provide information on the hematologic status.
Choice C is also not the best option as an MRI is not typically used to assess coagulation disorders.
A nurse reviews the laboratory data for an older patient. The nurse would be most concerned about which finding?
- A. Hematocrit of 35%
- B. Hemoglobin of 11.8 g/dL
- C. Platelet count of 400000/L
- D. White blood cell (WBC) count of 2800/L
Correct Answer: D
Rationale: The correct answer is D: White blood cell (WBC) count of 2800/L. A low WBC count (leukopenia) in an older patient can indicate an impaired immune system, making them vulnerable to infections. This is concerning as older adults have a weakened immune response. A: Hematocrit of 35% is within the normal range. B: Hemoglobin of 11.8 g/dL is slightly low but not a major concern as long as it's not significantly lower. C: Platelet count of 400000/L is within the normal range and not typically a cause for concern.
A 5-year-old boy presents with a 3-week history of his right eye “not moving to the right side.†The remainder of his neurologic exam is normal with the exception of a weak gag. MRI of the brain reveals a diffusely infiltrative mass in the pons. If this patient were to undergo a stereotactic biopsy, what would be the most likely molecular finding?
- A. BRAFKIAA1549 fusion
- B. Trisomy 21
- C. H3 K27M mutation
- D. RELA fusion
Correct Answer: C
Rationale: The correct answer is C: H3 K27M mutation. In children with diffuse midline gliomas, the most common molecular finding is the H3 K27M mutation. This mutation is associated with a worse prognosis and is commonly found in tumors located in the pons, which is consistent with the MRI findings in this case.
Choice A (BRAFKIAA1549 fusion) is incorrect as this fusion is typically associated with pilocytic astrocytomas, which are low-grade tumors and not typically found in the pons.
Choice B (Trisomy 21) is incorrect as it is a chromosomal abnormality associated with Down syndrome, not a molecular finding in brain tumors.
Choice D (RELA fusion) is incorrect as this fusion is typically found in ependymomas, which are not typically located in the pons.