bluuebunny/crossref_metadata_2025_split huggingface dataset:
Overview of Evidence-based Medicine: Challenges for Evidence-based Laboratory Medicine
Authors: McQueen Matthew J 
Published: January 2020

AbstractEvidence-based medicine (EBM) has been driven by the need to cope with information overload, by cost-control, and by a public impatient for the best in diagnostics and treatment. Clinical guidelines, care maps, and outcome measures are quality improvement tools for the appropriateness, efficiency, and effectiveness of health services. Although they are imperfect, their value increases with the quality of the evidence they incorporate. Laboratory professionals must direct more effort to demonstrating the impact of laboratory tests on a greater variety of clinical outcomes. Laboratory and clinical practitioners must be familiar with many of the accessible electronic and paper tools for searching for evidence. Detailed statistical and epidemiologic knowledge is not essential, but critical appraisal skills and a competent understanding of the strengths and weaknesses of systematic review and metaanalysis are necessary. Overemphasis on complexity and failure to recognize time limitations are major barriers to translating EBM into everyday practice. Emphasizing and practicing the role of the laboratory professional as a skilled clinical consultant strongly grounded in evidence as well, in addition to better integration of laboratory and clinical information and improved laboratory reports will overcome most barriers. There is a poverty of good, primary studies of test evaluations. Institution of more consistent standards for the design and reporting of studies on diagnostic accuracy should improve the situation. If nothing else, systematic reviews have demonstrated the need for more good-quality primary research in laboratory medicine.
Diagnosis of Trisomy 21 in Fetal Nucleated Erythrocytes from Maternal Blood by Use of Short Tandem Repeat Sequences
Authors: Samura Osamu , Sohda Satoshi , Johnson Kirby L , Pertl Barbara , Ralston Steven , Delli-Bovi Laurent C , Bianchi Diana W 
Published: January 2020

Abstract
Background: The purpose of this study was to determine whether aneuploid fetal nucleated erythrocytes (NRBCs) could be detected in maternal blood through the use of fluorescent PCR amplification with polymorphic short tandem repeat (STR) markers as an alternative or complementary method to analysis by fluorescent in situ hybridization (FISH).
Methods: Peripheral blood samples were obtained from women who had just undergone termination of pregnancy because of fetal trisomy 21 (three cases, 47,XY,+21; four cases, 47,XX,+21). Candidate fetal cells were isolated by flow-sorting by antibodies to the γ chain of fetal hemoglobin and Hoechst 33342. FISH analysis was performed by the use of chromosome-specific probes for X, Y, and 21. Fetal NRBCs, as defined by the presence of γ staining, characteristic morphology, and three chromosome 21 signals, along with maternal leukocytes, defined as γ negative and two chromosome 21 signals, were micromanipulated separately and subjected to fluorescent PCR amplification of chromosome 21 STR markers (D21S11, D21S1411, and/or D21S1412).
Results: In five of seven cases analyzed, fetal NRBCs were aneuploid, as determined by the presence of triallelic or diallelic peaks of chromosome 21 sequences when compared with sequences from the maternal leukocytes.
Conclusions: Fluorescent PCR amplification of STRs can detect fetal aneuploidy and may be useful in the setting of poor hybridization efficiency with FISH analysis. These results suggest that combined fetal aneuploidy and single-gene diagnoses by the use of DNA microarrays may be feasible in the near future.
Complete Scanning of the Hereditary Hemochromatosis Gene (HFE) by Use of Denaturing HPLC
Authors: Le Gac Gerald , Mura Catherine , Férec Claude 
Published: January 2020

Abstract
Background: Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluated denaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations.
Methods: Analytical conditions for each coding exon were determined by a combination of computer melting profile predictions and experimental melting curves. To test accuracy for scanning the complete HFE coding region and optimize DHPLC running conditions, each melting domain was investigated with at least one mutation or one polymorphism as reference. We tested 100 DNA samples harboring the C282Y, H63D, or S65C mutations and 17 artificially created positive controls that carried either 1 of the 14 other known HFE mutations or 3 selected polymorphisms.
Results: Investigations on each of the coding exons 1, 2, 4, 5, and 6 could be performed at one analysis temperature. Coding exon 3 displayed a more complex melting profile and required two analysis temperatures. DHPLC detected all known HFE mutations as well as the three selected polymorphisms.
Conclusions: DHPLC can be used to scan the HFE gene in HC probands in whom at least one chromosome lacks an assigned mutation.
Comparative Costs of Treating Adults and Children within Selected Diagnosis-related Groups
Authors: Young Donald S , Sachais Bruce S , Jefferies Leigh C 
Published: January 2020

Abstract
Background: There have been no large-scale analyses of resource utilization comparing the overall costs to treat pediatric patients vs adult patients. Likewise, there have been no studies evaluating the costs of the various components of hospitalization (e.g., accommodation, laboratory, radiology, and drugs) among adult and pediatric populations.
Methods: To study the effect of age on the costs of treating patients, we have evaluated 43 conditions with matching diagnosis-related groups (DRGs) for children and adults. Using a database developed by the University HealthSystems Consortium, we examined the major non-physician components of hospital costs, including accommodation, surgery, pharmacy, radiology, and laboratory for 1 346 028 patient admissions to 60 University hospitals. These costs were derived from the ratio of costs to charges based on the Centers for Medicare and Medicaid Services PPS UB-2 cost reports.
Results: The total non-physician cost of treating adults was generally greater than that for children within paired DRGs. Some of this difference may be attributable to the overall longer stay of adults in hospital. For conditions that were nominally the same, radiology, laboratory, and drug costs, especially tended to be higher for adults than for children. This was most marked when the costs were evaluated on a per diem basis. There tended to be greater variability in the costs of treating children than adults within the paired DRGs, as evidenced by greater differences between the median and mean costs.
Conclusions: Among University hospitals, the costs of managing children are typically less than for adults with the same nominal condition. In these hospitals, there tends to be less use of laboratory, radiology, and pharmacy services for children than for adults.
High-Throughput Detection of Submicroscopic Deletions and Methylation Status at 15q11-q13 by a Photo-Cross-Linking Oligonucleotide Hybridization Assay
Authors: Peoples Risa , Weltman Helena , Van Atta Reuel , Wang Jingli , Wood Michael , Ferrante-Raimondi Marta , Cheng Peter , Huan Bingfang 
Published: January 2020

Abstract
Background: Current technologies for assessing genetic deletions and duplications of greater than one kilobase are labor-intensive or rely on PCR-based methods, and none offers the ability to simultaneously detect dosage abnormalities, assess 5′-to-3′ cytosine-guanosine (CpG) methylation, and interrogate single-nucleotide polymorphisms (SNPs). We describe a high-throughput platform for direct gene-dosage determination capable of concurrent assessment of other forms of gene modification.
Methods: We used a light-activated interstrand nucleic acid cross-linking system (XLntTM technology) to determine gene dosage at the 15q11-q13 deletion/duplication locus. We incorporated restriction enzyme digestion of genomic DNA into the method to assess CpG methylation in parallel with gene dosage. For method validation we used DNA from 31 cell lines with previously characterized 15q11-q13 gene dosage and parental origin status. Diagnostic cutoffs were set at 0.5 ± 0.15, 1 ± 0.15–0.25, and 2 ± 0.3.
Results: Dosage-only experiments showed discrimination of deletions (n = 21) from healthy controls (NCs; n = 27) in all samples. Five of 49 samples gave results outside of specification. Concurrent evaluation of dosage and CpG methylation yielded dosage results within specification for 18 of 19 deletion and 8 of 12 NC samples. Paternal deletion and NC methylation pattern results were within specification in 17 of 19 and 9 of 12 runs, respectively. No overlap was demonstrated between value sets for the two groups.
Conclusions: The XLnt technology provides a rapid, high-throughput platform for the accurate determination of gene dosage. The flexibility of this technology allows parallel interrogation of gene dosage, CpG methylation, and SNPs.
European Concerted Action on Anticoagulation. Use of Plasma Samples to Derive International Sensitivity Index for Whole-Blood Prothrombin Time Monitors
Authors: Poller Leon , Keown Michelle , Chauhan Nikhil , van den Besselaar Anton MHP , Meeuwisse-Braun Joyce , Tripodi Armando , Clerici Mariagrazia , Jespersen Jørgen 
Published: January 2020

Abstract
Background: To simplify International Sensitivity Index (ISI) calibration, the possibility of substituting fresh plasma for fresh whole-blood samples with point-of-care testing (POCT) whole-blood monitors was investigated in a three-center study of three different POCT systems.
Methods: A modified full WHO calibration procedure based on 20 healthy controls and 60 coumarin-treated patients was performed on three monitoring systems with whole-blood and plasma samples against plasma tested using the European Concerted Action on Anticoagulation (ECAA) rabbit reference plain thromboplastin and the manual prothrombin time (PT) method.
Results: With one of the three systems, the mean ISI was 1.51 for whole blood and 1.49 for plasma; with the second system, the mean ISI was 1.08 for both whole blood and plasma. With the third system, however, the difference between the mean ISI for whole blood and that for plasma was greater (1.15 and 1.01, respectively). Overall, the precision of the calibrations was less than with traditional manual plasma PT testing.
Conclusions: Provided that an appropriate calcium chloride concentration is used, the plasma PT results can be used for accurate ISI calibration of two of these three whole-blood POCT systems. Precision criteria need to be modified for POCT monitors.
Preservation of Urine for Flow Cytometric and Visual Microscopic Testing
Authors: Kouri Timo , Vuotari Lotta , Pohjavaara Simo , Laippala Pekka 
Published: January 2020

Abstract
Background: Preservatives that could prevent destruction of cells, casts, and bacteria in urine are of great practical importance because they allow centralization and improvement of accuracy of urine particle counting. We compared two in-house mixtures and one commercial solution, as well as refrigeration, for their ability to preserve urine for both automated analysis (flow cytometry) and visual microscopy.
Methods: Urine specimens were preserved by refrigeration at 4 °C without preservatives (procedure 1); in a lyophilized solution intended to preserve specimens for bacterial culture (Urine C&S tubes; BD Preanalytical Solutions; procedure 2); in 10 mL/L formalin–0.15 mol/L NaCl (procedure 3); in 80 mL/L ethanol–20 g/L polyethylene glycol (procedure 4); and by storage at 20 °C without preservatives (procedure 5). Test strip measurements were used to select specimens positive for leukocyte esterase, hemoglobin, albumin, or nitrite. For 106 consecutive strip-positive specimens, urinalysis was performed by UF-100TM (Sysmex) and by phase-contrast microscopy after Sternheimer supravital staining. Automated analysis was performed at arrival in the morning, on the same day in the afternoon, and after 1 and 3 days. Visual microscopy was performed at arrival and 3 days later.
Results: Urine bacterial counts were well preserved with procedures 1–3, with a false-positive rate of 0.0–3.4% at day 3 vs 28% without preservation (procedure 5). Erythrocytes were poorly preserved for 3 days (κ coefficients, 0.24–0.61); after 1 day, fair preservation was seen with procedure 2 (κ = 0.78), compared with less favorable preservation with procedure 1 (κ = 0.61) or procedure 5 (κ = 0.66). Leukocytes were well preserved by all five procedures in the acidic adult urines investigated. Counts of casts and large epithelial cells were artifactually increased by procedure 3. Procedure 2 performed at least as well as refrigeration for specimens analyzed with visual microscopy.
Conclusions: Urine specimens from adults can be stabilized at room temperature for both automated particle analysis and visual microscopy.
Application of Microarrays to the Analysis of Gene Expression in Cancer
Authors: Macgregor Pascale F , Squire Jeremy A 
Published: January 2020

Abstract
Molecular diagnostics is a rapidly advancing field in which insights into disease mechanisms are being elucidated by use of new gene-based biomarkers. Until recently, diagnostic and prognostic assessment of diseased tissues and tumors relied heavily on indirect indicators that permitted only general classifications into broad histologic or morphologic subtypes and did not take into account the alterations in individual gene expression. Global expression analysis using microarrays now allows for simultaneous interrogation of the expression of thousands of genes in a high-throughput fashion and offers unprecedented opportunities to obtain molecular signatures of the state of activity of diseased cells and patient samples. Microarray analysis may provide invaluable information on disease pathology, progression, resistance to treatment, and response to cellular microenvironments and ultimately may lead to improved early diagnosis and innovative therapeutic approaches for cancer.
The Spectrophotometric Determination of the Oxygen Saturation of Blood
Authors: Johnston George W , Holtkamp Freddy , Eve John R 
Published: January 2020

Abstract
A modification of the Gordy and Drabkin method for the determination of oxygen saturation of blood has been presented. The equipment used is readily available, and the results are sufficiently accurate for clinical use. The method is particularly useful in analysing multiple samples of blood such as obtained by cardiac catheterization. Approximately 500 blood samples have been analysed by the described procedure during a 6-month period. Ten samples may easily be analysed during a 1-hour period using the described procedure.
Measurement of Isocitric Dehydrogenase Activity in Body Fluids
Authors: Bowers George N 
Published: January 2020

Abstract
1. Factors influencing the isocitric dehydrogenase (ICD) activity of serum were studied. Substrate inhibition by high concentrations of isocitrate was observed.
2. The temperature-activity curve of serum ICD was determined. The importance of controlling the temperature of the reaction was stressed.
3. Using this information, a method of measuring the ICD activity in 0.2 ml. of serum is described.
4. The range of ICD activity in 50 healthy males was 30 to 192 units with a mean of 90 units and a standard deviation of ± 34.3 units.
A Scheme for the Rapid Identification in Urine of Commonly Used Sedatives, Hypnotics, and Tranquilizers
Authors: Sobolewski Georges , Nadeau Guy 
Published: January 2020

Abstract
A procedure is described to identify common sedatives, hypnotics, and ataractics in 20 ml. of urine, with the aid of four extractions and five relatively simple reactions. The whole scheme, which involves no special equipment and requires about 2 hours, will detect the drugs at the usual therapeutic levels and, hence, has been found convenient not only in acute drug intoxication, but also in ascertaining that patients comply with the prescribed medication.
Study on the Determination of Heavy Water in Plasma or Urine
Authors: Gaebler O H , Choitz Harold C 
Published: January 2020

Abstract
A technic has been described for determining the excess of deuterium oxide in plasma or urine, by directly measuring 19:18 ratios in vapor from these fluids with a mass spectrometer of suitable design. Although the 19:18 ratio for water varied with sample size and other experimental conditions, the increment in ratio per unit concentration of added D2O remained quite uniform. A virtually linear relationship between the increment in ratio and the concentration of added D2O also facilitated checking the calibration. The time required for flushing out deuterium when a Pyrex inlet system was used could be minimized by carrying out both the calibrations and the analyses in triplicate, without intermediate flushing, but with adherence to a strict time schedule. Results calculated from increments in ratio for the second and third samples of vapor rarely differed from their average value by more than ± 0.8 per cent.
Simplified Technic for Estimation of Serum Lipoprotein Cholesterol
Authors: Searcy R L , Bergquist L M , Jung R C , Craig R , Korotzer J 
Published: January 2020

Abstract
A phosphomolybdic acid reagent was used to identify serum alpha- and beta-lipoproteins separated electrophoretically on filter paper. Cholesterol associated with these areas on unstained strips was eluted directly into a ferrous sulfate-acetic acid mixture for colorimetric analysis. The results obtained with the proposed method compared favorably with those of Nury and Smith (7). The sums of the values obtained for the alpha- and beta-lipoprotein cholesterols agreed well with measurements of serum total cholesterol by another method (12). Sex and age differences in the concentration of alpha- and beta-lipoprotein cholesterol were suggested by results obtained on 200 randomly selected blood donors.
Simplified Determination of the Lipid Components of Blood Serum
Authors: Connerty Harold V , Briggs Anglis R , Eaton Edward H 
Published: January 2020

Abstract
A simplified scheme of analysis is presented for the determination of free and esterified cholesterol, the phospholipids, and the neutral fats (triglycerides) of blood serum. The hydroxamic acid reaction is used to determine total esterified fatty acids. The phospholipids are determined after acid digestion of a trichloroacetic acid precipitate of protein-phospholipid, and both total and free cholesterol are determined by a modified ferric ammonium sulfate reagent. Complete details of methods and calculations are described and discussed.
Unusual Electrophoretic Patterns of Plasma Proteins in Human Subjects
Authors: Kanabrocki Eugene L 
Published: January 2020

Abstract
Study of 313 plasma electrophoretic patterns from 158 hospitalized subjects revealed that 30 per cent of these patients exhibited a heterogeneity marked by occurrence of double peaks in the alpha-2 and 6 per cent in the beta globulin fraction. Occurrence of double peaks could not be related to any specific disease. Similar study of plasma from 18 normal adult subjects did not reveal double peaks in any of the protein fractions. Existence of prealbumin components, with mobilities greater than that of the albumin, has been observed in 6 of 158 pathological subjects. Mobilities and concentrations of components x1, x2, and x3 are reported.
X-Ray Spectroscopy in the Clinical Laboratory
Authors: Natelson Samuel , Sheid Bertrum 
Published: January 2020

Abstract
X-ray spectroscopy was applied to the determination of the total phosphorus content of serum and the iron content of whole blood (hemoglobin). Samples were placed on confined spots on paper, dried, then passed through the X-ray field. Concentration was then determined from the peaks as drawn on a recorder. A device is described that permits automatic assay of successive samples dried on paper without delays between readings. Samples are placed in the field and rapidly withdrawn at 30-sec. intervals, the response of the recorder serving as a measure of concentration. Results for total phosphorus in serum and total iron in whole blood were compared with those obtained by a wet ashing procedure. No significant difference with respect to both mean values and precision was observed except that total iron by the wet ashing procedure was more precise. However, the X-ray technic was adequate for clinical purposes. Hemoglobin levels calculated from whole-blood iron values demonstrated that bilirubin, red cell debris, leukocytes, and lipids interfered in the colorimetric but not in the X-ray procedure. A hemoglobinometer based on the X-ray spectroscopic technic may, therefore, yield results of greater clinical significance.
Simplified Technic for the Determination of Serum Protein-Bound Iodine
Authors: Faulkner Louise W , Levy Richard P , Leonards Jack R 
Published: January 2020

Abstract
A simplified technic for the determination of serum protein-bound iodine (PBI) is presented. Endogenously labeled l131 PBI is completely recovered. The technic is based on the method of Barker et al. (1) and includes the following modifications: The number of washes of the precipitated serum proteins are decreased. Unashed iodide standards are used in a sodium carbonate solution rather than an internal standard. A temperature-correction formula is employed to allow the cericarsenite-iodide reaction to be carried out at room temperature, and a stable cerate color is produced with brucine sulfate so that the colorimetry is carried out with greater convenience. The serum PBI concentrations are read directly from a graph, which simplifies the calculations.
Absorption Measurements for Oxygenated and Reduced Hemoglobin in the Range 0.6—1.88 Microns
Authors: Barlow Robert B , Polanyi Michael L 
Published: January 2020

Abstract
Absorbance measurements are made for oxygenated and reduced hemoglobin in the range 0.6—1.88 µ for application to new methods of dye-dilution studies. Experimental results show that an isosbestic region exists between 1.3 and 1.88 µ, with the relative extinction coefficients of O2Hb and Hb equaling zero at 1.3, 1.67, and 1.77 µ.
Continuous In-Vivo Estimation of Blood Alcohol
Authors: Nadeau Guy , Fortin Benoit , Dugal Pierre 
Published: January 2020

Abstract
Automated chemical analysis was applied to constant in-vivo experiments on dogs for the determination of blood alcohol. The continuous blood collection was similar to that in earlier experiments for determination of blood glucose in humans.
Although interferences by glucose was observed in the chemical methodology used, preliminary data show that the rise of blood alcohol is slower following I.V. administration of alcohol-water mixtures than with alcohol-saline solutions. With the experimental animal under pentobarbital anesthesia, the alcohol equilibrium is reached more rapidly and the elimination period is significantly prolonged.
Use of The Sanz Pipet in the Clinical Laboratory
Authors: Westover Leola , Wertman Maxine , Ware Arnold G 
Published: January 2020

Abstract
The Sanz micropipet, which is made of polyethylene tubing, is evaluated. With use of the chloride determination (Cotlove Chloridometer) as a reference analysis, it is shown that the pipetting error is well under 1 per cent.