A 2-year-old girl presents with an abdominal mass found on p…
A 2-year-old girl presents with an abdominal mass found on physical exam. Imaging reveals a large renal mass. Her history includes hemihyperplasia and macroglossia, and she has an omphalocele scar from infancy. Genetic testing confirms a mutation affecting chromosome 11p15. Which gene is most likely altered and contributes to tumorigenesis in this patient?
Read DetailsA clinical laboratory’s listing on the CMS Laboratory Regist…
A clinical laboratory’s listing on the CMS Laboratory Registry has recently been marked inactive due to a lapse in CLIA certification renewal. As a result, the lab is not permitted to submit claims for Medicare or Medicaid reimbursement. Which of the following best explains why this occurred?
Read DetailsA neonate presents with a large lumbar cystic mass. Neurolog…
A neonate presents with a large lumbar cystic mass. Neurological exam reveals paralysis of the lower limbs and loss of bowel/bladder control. Imaging confirms herniation of both meninges and spinal cord. What is the most likely diagnosis?
Read DetailsMichael presents to the outpatient clinic with a persistent…
Michael presents to the outpatient clinic with a persistent productive cough, nasal congestion, and episodes of sinus pressure. He reports these symptoms have been present since early childhood and have worsened in recent months. He frequently coughs up thick yellow-green sputum and has had multiple diagnoses of bronchitis and sinus infections each year. He also notes difficulty breathing during exercise and chronic postnasal drip. He recalls being told during a school screening that his heart sounds were on the “wrong side,” though no follow-up was done at that time. The diagnosis is most likely ________.
Read DetailsYour lab receives Proficiency Testing (PT) results indicatin…
Your lab receives Proficiency Testing (PT) results indicating a failure to correctly identify tissue type in one of the slides submitted. The laboratory manager initiates a corrective action plan and documents the investigation. Which step of the PT process is being illustrated here?
Read DetailsA 48-year-old male with a history of early-onset COPD, now p…
A 48-year-old male with a history of early-onset COPD, now presents with signs of portal hypertension and elevated liver enzymes. He has never smoked. Serum AAT is undetectable. Which combination of organs are most directly affected in alpha-1 antitrypsin deficiency?
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