Interference of Therapeutic Monoclonal Antibodies With Routine Serum Protein Electrophoresis and Immunofixation in Patients With Myeloma: Frequency and Duration of Detection of Daratumumab and Elotuzumab.

Objectives: We investigated the frequency and pattern of detection of therapeutic monoclonal antibodies (t-mAbs) daratumumab and elotuzumab by routine serum protein electrophoresis (SPE) and immunofixation (IF) in treated patients with myeloma.

Methods: Detection of t-mAb was assessed in 22 patients by retrospective review of SPE/IF ordered prior to, during, and after 26 individual courses of therapy.

Results: t-mAb was distinguishable from M-protein in 16 of 26 courses, with daratumumab detected in nine of nine and elotuzumab in six of seven patients.

Evaluation of Quantitative Real-Time PCR as a Hepatitis C Virus Supplementary Test After RIBA Discontinuation.

Laboratory testing plays a major role in hepatitis C virus (HCV) diagnosis and patient follow-up. The high false positive rates of HCV screening tests require confirmation through a supplementary test. According to the 2003 CDC guidelines, recombinant immunoblot assay (RIBA) is indispensible to confirm positive screening results and differentiate biologic false positivity from true HCV exposure.

Validation of hemolysis index thresholds optimizes detection of clinically significant hemolysis.

Objectives: Automated hemolysis index (HI) measurement has standardized the identification and gradation of sample hemolysis.

Methods: This study evaluates whether clinically significant changes in the concentration of intracellular analytes occur at manufacturer-recommended automated HI thresholds (HI ≥3, >25 mg/dL hemoglobin).

Results: Adult outpatient results for serum potassium (K+), magnesium (Mg), lactate dehydrogenase (LDH), and aspartate aminotransferase (AST) were analyzed.

Translational control during endoplasmic reticulum stress beyond phosphorylation of the translation initiation factor eIF2α.

The accumulation of unfolded/misfolded proteins in the endoplasmic reticulum (ER) causes stress to which an unfolded protein response is activated to render cell survival or apoptosis (chronic stress). Transcriptional and translational reprogramming is tightly regulated during the unfolded protein response to ensure specific gene expression. The master regulator of this response is the PERK/eIF2α/ATF4 signaling where eIF2α is phosphorylated (eIF2α-P) by the kinase PERK.

Next-Generation Sequencing to Help Monitor Patients Infected with HIV: Ready for Clinical Use?

Given the extreme variability of the human immunodeficiency virus (HIV) and its ability to replicate as complex viral populations, HIV variants with reduced susceptibility to antiretroviral drugs or with specific coreceptor tropism (CCR5 and/or CXCR4) may be present as minority members of the viral quasispecies. The sensitivity of current HIV genotypic or phenotypic assays is limited, and thus, these tests usually fail to detect low-abundance viral variants. Next-generation (deep) sequencing (NGS) produces an enormous amount of information that allows the detection of minority HIV variants at levels unimaginable using standard Sanger sequencing.

Sensitive deep-sequencing-based HIV-1 genotyping assay to simultaneously determine susceptibility to protease, reverse transcriptase, integrase, and maturation inhibitors, as well as HIV-1 coreceptor tropism.

With 29 individual antiretroviral drugs available from six classes that are approved for the treatment of HIV-1 infection, a combination of different phenotypic and genotypic tests is currently needed to monitor HIV-infected individuals. In this study, we developed a novel HIV-1 genotypic assay based on deep sequencing (DeepGen HIV) to simultaneously assess HIV-1 susceptibilities to all drugs targeting the three viral enzymes and to predict HIV-1 coreceptor tropism. Patient-derived gag-p2/NCp7/p1/p6/pol-PR/RT/IN- and env-C2V3 PCR products were sequenced using the Ion Torrent Personal Genome Machine.

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

Pyruvate dehydrogenase complex (PDC) deficiency is a relatively common mitochondrial disorder that primarily presents with neurological manifestations and lactic acidemia. We analyzed the clinical outcomes and neurological features of 59 consented symptomatic subjects (27 M, 32 F), who were confirmed to have PDC deficiency with defined mutations in one of the genes of PDC (PDHA1, n = 53; PDHB, n = 4; DLAT, n = 2), including 47 different mutations, of which 22 were novel, and for whom clinical records and/or structured interviews were obtained. 39% of these subjects (23/59) have died.

Comparison of diabetes mellitus and insulin resistance screening methods for women with polycystic ovary syndrome.

Objective: To compare screening strategies for type 2 diabetes mellitus (DM), impaired glucose tolerance (pre-DM), and insulin resistance (IR) in women with polycystic ovary syndrome (PCOS).

Design: Prospective study.

Setting: Academic reproductive endocrinology practice.

Procedure-specific preoperative red blood cell preparation and utilization management in pediatric surgical patients.

Background: Data-driven practices in preoperative red blood cell (RBC) preparation for pediatric surgical procedures are not well established. Adaptation of established adult preparation guidance methods to pediatric populations may improve perioperative RBC utilization.

Study Design And Methods: A retrospective audit of preoperative RBC preparation volumes (Vp) and intraoperative RBC transfusion volumes (Vt) for pediatric surgical procedures was undertaken at a large children's hospital from January to June 2006.

Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.

von Hippel-Lindau (VHL) disease is an inherited multisystem familial cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. A wide variety of neoplastic processes are known to be associated with VHL disease. The consequences of the VHL mutations and the pathway for tumor development continue to be elucidated.

Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch.

Agnathia (otocephaly) is a sporadic malformation characterized by agenesis of the mandible with characteristic dysmorphologic sequelae. We compare the prenatal presentations and dysmorphologic abnormalities of 2 female fetuses with agnathia. Fetus 1 was delivered at 33 weeks' gestational age and showed agnathia with characteristic sequelae of microstomia; microglossia; persistent buccopharyngeal membrane; and ventrally placed, malformed external ears.