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You receive a phone call from a community pediatrician who is caring for a 2-year-old toddler with a cancer predisposition syndrome. The pediatrician describes a child at the 95th percentile for height and weight with a history of corrective oral surgery to reduce a large tongue and a history of an omphalocele in infancy. The pediatrician is currently performing ultrasound of the abdomen and laboratory evaluation for this patient every 3 months. Which tumor is this patient most at risk of developing?
- A. Pleuropulmonary blastoma
- B. Hepatocellular carcinoma
- C. Cystic nephroma
- D. Nephroblastoma
Correct Answer: D
Rationale: The correct answer is D: Nephroblastoma. This patient likely has Beckwith-Wiedemann syndrome based on the large tongue (macroglossia) and omphalocele. Beckwith-Wiedemann syndrome is associated with an increased risk of developing nephroblastoma (Wilms tumor). The 95th percentile for height and weight is also a common feature of this syndrome. Pleuropulmonary blastoma (choice A) is more commonly seen in patients with DICER1 mutations. Hepatocellular carcinoma (choice B) is not typically associated with Beckwith-Wiedemann syndrome. Cystic nephroma (choice C) is more commonly seen in patients with DICER1 mutations, not Beckwith-Wiedemann syndrome.
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A nurse is caring for a client who is about to begin taking aspirin to reduce the risk of a cardiovascular event. The nurse should identify that the drug inhibits platelet aggregation by which of the following mechanisms?
- A. Activating thromboxane A2
- B. Blocking adenosine diphosphate receptor agonists
- C. Suppressing specific clotting factors
- D. Inhibiting cyclooxygenase action in platelets
Correct Answer: D
Rationale: The correct answer is D: Inhibiting cyclooxygenase action in platelets. Aspirin works by irreversibly inhibiting cyclooxygenase, specifically COX-1, in platelets. By inhibiting COX-1, aspirin prevents the formation of thromboxane A2, which is a potent platelet aggregator. This action reduces platelet aggregation and ultimately decreases the risk of clot formation leading to a cardiovascular event.
Choice A is incorrect because aspirin does not activate thromboxane A2, but rather inhibits its formation. Choice B is incorrect as aspirin does not block adenosine diphosphate receptors. Choice C is incorrect as aspirin does not suppress specific clotting factors, but rather inhibits platelet function through the mechanism described above.
A home health nurse is caring for a patient with multiple myeloma. Which of the following interventions should the nurse prioritize when addressing the patient's severe bone pain?
- A. Implementing distraction techniques
- B. Educating the patient about the effective use of hot and cold packs
- C. Teaching the patient to use NSAIDs effectively
- D. Helping the patient manage the opioid analgesic regimen
Correct Answer: D
Rationale: The correct answer is D because severe bone pain in multiple myeloma often requires strong analgesics like opioids for effective pain management. Distraction techniques (A) may provide temporary relief but may not address the underlying pain. Hot and cold packs (B) are more suited for musculoskeletal injuries, not severe bone pain. NSAIDs (C) are usually not sufficient for managing severe bone pain in multiple myeloma. Therefore, helping the patient manage the opioid analgesic regimen (D) is the priority for effective pain control.
You are consulted on a 4-year-old girl who is newly diagnosed with standard-risk pre-B acute lymphoblastic leukemia. After reviewing her previous complete blood examinations, you note she has had a platelet count ranging from 80,000 to 100,000 cells/mcL over the past 2 years. Her father mentions that he has also been told he has mild thrombocytopenia. You suspect the child may have a cancer predisposition syndrome. Which sample should you send for analysis, and which gene is most likely implicated?
- A. Skin fibroblasts to evaluate the RUNX1 gene
- B. Skin fibroblasts to evaluate the ETV6 gene
- C. Buccal swab to evaluate the RUNX1 gene
- D. Buccal swab to evaluate the ETV6 gene
Correct Answer: B
Rationale: The correct answer is B: Skin fibroblasts to evaluate the ETV6 gene.
1. ETV6 gene mutations are associated with inherited thrombocytopenia, making it a likely candidate in this case.
2. Skin fibroblasts are needed for genetic analysis as they provide a reliable sample for detecting genetic mutations.
3. RUNX1 gene mutations are also linked to thrombocytopenia but are more commonly associated with familial platelet disorder with predisposition to acute myeloid leukemia.
4. Buccal swabs are not ideal for evaluating genetic mutations related to thrombocytopenia as they may not provide sufficient genetic material for accurate testing.
A 6-year-old boy is noted to have worsening visual acuity on serial eye exams. Recent MRI of his brain and orbits reveals an optic chiasm mass, most consistent with an optic pathway glioma. Upon further examination, the physician notes axillary freckling and numerous “spots†on the patient's skin. This patient most likely has a which of the following genetic disorders?
- A. Neurofibromatosis type-1 (NF1)
- B. Li Fraumeni syndrome
- C. Tuberous sclerosis
- D. Cystic Fibrosis
Correct Answer: A
Rationale: The correct answer is A: Neurofibromatosis type-1 (NF1). This is because the patient presents with optic pathway glioma, axillary freckling, and numerous skin spots, which are characteristic features of NF1. NF1 is caused by a mutation in the NF1 gene on chromosome 17, leading to the development of various tumors. Li Fraumeni syndrome is associated with multiple cancers but not specifically with optic pathway glioma or skin findings. Tuberous sclerosis presents with facial angiofibromas, cortical tubers, and subependymal nodules, not optic pathway glioma. Cystic fibrosis is a genetic disorder affecting the lungs and digestive system, not associated with the symptoms described in the patient.
A 30 year old patient had presented with fever and posterior cervical lymphadenopathy over the past two years. Which is the most probably causative organism?
- A. Trypanosoma cruzi
- B. Trypanosoma brucei rhodesiense
- C. Trypanosoma brucei gambiense
- D. Leishmania donovani
Correct Answer: C
Rationale: The correct answer is C: Trypanosoma brucei gambiense. This is the most probable causative organism because the patient's presentation of fever and posterior cervical lymphadenopathy over a prolonged period aligns with the chronic infection caused by Trypanosoma brucei gambiense, which leads to African Trypanosomiasis (sleeping sickness). Trypanosoma cruzi (choice A) causes Chagas disease, which typically presents with acute symptoms such as fever and swelling at the site of infection. Trypanosoma brucei rhodesiense (choice B) causes acute African Trypanosomiasis with a more rapid progression compared to gambiense. Leishmania donovani (choice D) causes visceral leishmaniasis, which presents with prolonged fever, splenomegaly, and pancytopenia, but not typically with cervical lymphadenopathy.