STUDENT DISCUSSION Min Yu,1* David E. Bruns,1 Jerry A. Katzmann,2 Lawrence M. Silverman,1 and David L. Murray2 1Division of Laboratory Medicine, Department of Pathology, University of Virginia, School of Medicine and Health System, Charlottesville, VA; 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. *Address correspondence to this author at: Division of Laboratory Medicine, Department of Pathology, University of Virginia School of Medicine and Health System, PO Box 800168, Charlottesville, VA 22908. Fax 434-924-2107; e-mail my7m@virginia.edu Case Description A 62-year-old Virginia man in good health was found on routine testing to have a decreased platelet count of 124k/μL (reference interval: 150–450k/μL). There was no evidence of bruising or bleeding, and there was no family history of thrombocytopenia. His weight was stable, and he had no complaints of pain and no gastrointestinal, musculoskeletal, or hematological symptoms. He denied fatigue, fevers, chills, and night sweats. Past medical history included hypothyroidism and chronic obstructive pulmonary disease. Physical examination was unremarkable. Serum protein electrophoresis (Fig. 1A) revealed 2 restricted bands in the γ region, identified by immunofixation (IFE)3 electrophoresis (Fig. 1B) as IgG κ proteins. The combined concentration of these 2 bands was <1.0 g/dL as estimated by densitometry of the stained serum protein electrophoresis gel. IFE (Fig. 1B) also revealed an α-heavy chain band in the α-2 region with no corresponding light-chain band. Immunoglobulin quantification results were as follows: IgA 107 mg/dL (reference interval: 60–263 mg/dL), IgG 1376 mg/dL (reference interval: 694–1618 mg/dL), and IgM 36 mg/dL (reference interval: 60–263 mg/dL). Serum free κ light chain was 3.01 mg/dL (reference interval: 0.33–1.94 mg/dL), and serum free λ light chain was 1.85 mg/dL (reference interval: 0.57–2.63 mg/dL). The κ:λ free-lightchain ratio was 1.6 (reference interval: 0.26 –1.65). Urine IFE showed no monoclonal immunoglobulins. Questions to Consider What tests are appropriate to evaluate asymptomatic mild thrombocytopenia? What are the expected clinical and laboratory findings in alpha-heavy-chain disease? What is the likely explanation of the IFE finding of a free alpha-heavy chain in this patient? What other laboratory tests would you perform to characterize the alpha-heavy-chain band found on IFE? Final Publication and Comments The final published version with discussion and comments from the experts appears in the February 2018 issue of Clinical Chemistry, approximately 3-4 weeks after the Student Discussion is posted.
by fromfbergwithlovedesigned.site SUMMARY A 3-year-old female presented to the emergency department with worsening myoclonic and atonic seizures. Several months before presentation, she was diagnosed with epilepsy and was treated with an antiepileptic medication (zonisamide, 10 g/L oral suspension, twice daily). STUDENT DISCUSSION Joesph R. Wiencek,1,2* Dennis J. Dietzen,3,4 Teresa Murray,2 Sheila Dawling,5 Jennifer M. Colby,2 and James H. Nichols2 1Division of Laboratory Medicine, Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA; 2Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN; 3Department of Pathology and Immunology, Washington University School of Medicine, St. Louis; 4Core Laboratory, St. Louis Children’s Hospital, St. Louis, MO; 5Aegis Sciences Corporation, Nashville, TN. *Address correspondence to this author at: Division of Laboratory Medicine, Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA 22908-0168. Fax +434-924-2107; e-mail joesph.wiencek@virginia.edu Case Description A 3-year-old female presented to the emergency department with worsening myoclonic and atonic seizures. Several months before presentation, she was diagnosed with epilepsy and was treated with an antiepileptic medication (zonisamide, 10 g/L oral suspension, twice daily). While admitted, clinical laboratory testing for complete cell counts, comprehensive metabolic panel, and plasma lactate and ammonia were all within reference intervals (data not shown). However, nutritional assessment by plasma amino acid (PAA)6 analysis revealed that branched-chain amino acids (BCAAs) were increased for alloisoleucine (allo-ile), normal for leucine (leu), and mildly increased for valine (val) and isoleucine (ile; Fig. 1). Similar results were obtained following repeat PAA analysis despite a history of unremarkable newborn screening (NBS). Due to persistently increased all-oile concentrations, the biochemical geneticist recommended urine organic acid (UOA) analysis and sequencing for a maple syrup urine disease (MSUD) panel [4 genes: branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA),7 branched chain keto acid dehydrogenase E1 subunit beta (BCKDHB), dihydrolipoamide branched chain transacylase E2 (DBT ), and dihydrolipoamide dehydrogenase (DLD)]. The UOA analysis did not detect any compounds typically associated with MSUD and no previously-reported MSUD variants were identified through genetic testing. Perplexed by the inconsistent results, the geneticist reached out to the clinical laboratory. Questions to Consider What is the clinical significance of increased allo-ile concentrations in plasma? What methodologies are available for PAA analysis in the clinical laboratory? How do you explain the discrepancy between the PAA analysis and the UOA and genetic testing? Final Publication and Comments The final published version with discussion and comments from the experts appears in the October 2018 issue of Clinical Chemistry, approximately 3-4 weeks after the Student Discussion is posted.
by fromfbergwithlovedesigned.site SUMMARY A 25-year-old woman presented to the emergency department with a 1-day history of nausea, fatigue, exertional lightheadedness, and a syncopal event without witnessed seizure activity or urinary incontinence. STUDENT DISCUSSION Monica R. Hill, Mark R. Hopkins, and Claire E. Knezevic* Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD. *Address correspondence to this author at: 1800 Orleans St, Zayed B1–1020G, Baltimore, MD 21287. Fax +410-955-0767; e-mail cknezev1@jhmi.edu Case Description A 25-year-old woman presented to the emergency department with a 1-day history of nausea, fatigue, exertional lightheadedness, and a syncopal event without witnessed seizure activity or urinary incontinence. The patient had a past medical history of fibromyalgia and nonepileptiform seizure disorder, and she was prescribed oxycodone for use as needed (although she reported as “not really taking”) and ibuprofen for pain. She denied use of any other medications, illicit substances, or herbal supplements. Her family history was negative for cardiac problems or history of sudden death. At presentation, her blood pressure was 75/42 mmHg; heart rate was 61 beats/min (intermittently dropping to the 30s); temperature was 36.3 °C (97.3 °F), respiration was 16 breaths/min; and oxygen saturation was 99% by pulse oximetry. Her physical examination was remarkable for ongoing near-syncopal events and an irregular cardiac rhythm with variable S1 and S2 without murmurs, rubs, or gallops. Initial electrocardiogram (ECG) showed bradycardia with a wide-complex rhythm and QTc prolongation to 554 ms (Fig. 1). Two prior ECGs within the past 2 years had shown normal sinus rhythm with normal intervals. Questions to Consider What is the differential diagnosis for a patient with a prolonged QT interval? What are the appropriate initial steps in evaluating patients with a suspected toxidrome? What is the clinical value of send-out toxicology testing? Final Publication and Comments The final published version with discussion and comments from the experts appears in the November 2019 issue of Clinical Chemistry, approximately 3-4 weeks after the Student Discussion is posted.
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