A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations.

Disorders of mitochondrial function are responsible for many inherited neuromuscular and metabolic diseases. Their combination of high mortality, multi-systemic involvement, and economic burden cause devastating effects on patients and their families. Molecular diagnostic tools are becoming increasingly important in providing earlier diagnoses and guiding more precise therapeutic treatments for patients suffering from mitochondrial disorders.

The Novel Use of Umbilical Cord Blood to Obtain Complete Blood Counts for Critical Neonatal Assessment.

Background: Neonates undergoing clinical evaluations are often subjected to potentially painful phlebotomy for laboratory tests. The use of cord blood laboratory values for admission has been suggested as a means to decrease the risk of painful venipuncture and anemia.

Methods: Peripheral and umbilical cord blood complete blood count (CBC) results were obtained from infants who required a CBC.

Massive Transfusion Protocol in a 69 Year Old Woman with Alloantibodies.

Unlike routine blood transfusions that are managed by attending providers and rely on compatibility testing, massive transfusions are managed by the trauma team members, who usually do not have immediate access to compatibility testing. Incompatible C or E antigens, when present in uncrossmatched O positive blood, require transfusion support so that health care professionals can manage potential causes for extravascular hemolysis. Herein, we describe a massive transfusion situation in which immediate patient management was required to mitigate potentially fatal clinical consequences of transfused red blood cell antibodies.

Effects of lubricants and wash solutions on semen evaluation in a fertility clinic laboratory.

Objective: The complex nature of semen components and the various collection procedures make standardization of semen analysis (SA) challenging. Therefore, the main goal of this study was to optimize and improve the quality and utility of the SA report.

Methods: Semen samples (n = 20) were split into 2 aliquots to compare 2 isolation gradients.

How can a methadone and an opiate-positive immunoassay result be reconciled in a patient prescribed only OxyContin and Wellbutrin?

Appropriate management of patients in pain clinics can be complex and sometimes confusing because providers must correctly interpret multiple sources of patient information. The correct interpretation of laboratory results is essential to guide subsequent patient treatment and management; however, laboratory and clinical pictures can appear to be conflicting in cases of substance abuse. Incorrect interpretation of laboratory results can multiply negative impacts on clinical outcomes and may lead to patient harm or death.

Are renal reference intervals required when screening for plasma cell disorders with serum free light chains and serum protein electrophoresis?

Renal impairment and polyclonal hypergammaglobulinemia may abnormally increase the serum free light chain (sFLC) ratio, giving false-positive results with current reference intervals. We measured sFLCs with concomitant serum protein electrophoresis (SPEP) and urine protein electrophoresis (UPEP) in 281 patients. Results were interpreted relative to renal function (serum creatinine concentrations) and polyclonal hypergammaglobulinemia.

Performance of the Roche second generation hemoglobin A1c immunoassay in the presence of HB-S or HB-C traits.

Blood HbA1c determination is a powerful tool for the evaluation and management of patients with diabetes mellitus. Many HbA1c analytical methods demonstrate bias in samples from patients with hemoglobinopathies. This study evaluated the analytical performance of Roche Diagnostics' 1st and 2nd generation HbA1c assays in patients with or without hemoglobinopathies whose HbA1c levels were elevated or normal, respectively.

To what extent are free testosterone (FT) values reproducible between the two Washingtons, and can calculated FT be used in lieu of expensive direct measurements?

Free testosterone (FT) measurement by equilibrium dialysis and liquid chromatography-tandem mass spectroscopy (LCMS/MS) is the "gold standard." We hypothesized that calculated FT values could substitute for measured values; compared FT results reported by Walter Reed Army Medical Center (WRAMC), Washington, DC, with results reported by the Seattle Veterans Affairs Health Care System, Seattle, WA, for 3 patient groups; and evaluated the calculated FT values by gold-standard measurements. Groups 1 and 2 included samples from 54 patients evaluated in Seattle and 94 evaluated at a primary care clinic in Alaska whose samples were analyzed in Seattle, respectively, whose care resulted in ordering an FT measurement.

Assessment of serum free light chain assays for plasma cell disorder screening in a Veterans Affairs population.

This study evaluated serum kappa and lambda free light chain (FLC) concentrations in a Veterans Affairs (VA) population. We hypothesized that our older, mostly male, population should not differ in serum FLC ranges from levels previously established for younger male and female populations and that the assay would improve our screening protocol for plasma cell dyscrasias (PCD). Serum kappa and lambdaFLC were assayed in 312 consecutive serum samples collected during a 16-week period from veterans whose clinical presentation indicated a need for serum protein electrophoresis (SPEP) analysis.

Can an immunoassay become a standard technique in detecting oxycodone and its metabolites?

Opiate toxicology testing is routinely performed in the hospital setting to identify abusers and/or to determine those patients who are not taking prescribed opiate analgesics such as oxycodone. Commercially available assays for opiate detection in urine have decreased sensitivity for oxycodone, which contributes to a high false-negative rate. Functioning as a beta site, our Veterans Affairs hospital evaluated a new enzyme immunoassay, DRI Oxycodone Assay, for its use in the qualitative and semiquantitative detection of oxycodone in urine.

Albumin cobalt binding assay to rule out acute coronary syndrome.

The purpose of this study was to validate the Albumin Cobalt Binding (ACB) assay at the Seattle Veterans Affairs (VA) Hospital to determine if it would provide an earlier rule-out of acute coronary syndrome (ACS) in patients, compared to current use of cardiac injury markers. This study compares the distribution of ischemia modified albumin (IMA) values of our patient population to those provided by the kit manufacturer. IMA values were determined photometrically on a Roche Modular Analytical System on 200 subjects: 69 subjects not experiencing chest pain (normals), 78 subjects presenting to the emergency room (ER) with chest pain whose initial and subsequent troponin results were negative (non-converters), and 53 subjects presenting to the ER with chest pain whose initial troponin result was negative but subsequent troponin results were positive (converters).

Cardiac injury markers and a failed algorithm: can accurate assessment of acute myocardial infarction be cost effective?

Context: Most studies assessing the use of cardiac injury markers, such as cardiac troponin I (cTnI), total creatine kinase (CK Total), and the cardiac isoenzyme of CK (CK-MB), agree that cTnI is the most specific test for diagnosing acute myocardial infarction (AMI). However, throughout the literature, there are ambiguities and contradictions on assay-ordering criteria. Inconsistent ways of viewing biochemical assessment of acute chest pain leads to cardiac injury marker assay-ordering patterns that can be nonspecific, ambiguous, and costly.