BACKGROUND: The associations of vitamin D deficiency with various clinical conditions highlighted the importance of vitamin D testing. Currently, clinicians measure only the total 25-hydroxyvitamin D [25(OH)D] concentration, regardless of its bioavailability. We aimed to determine the effect of vitamin D-binding protein (VDBP) on 25(OH)D bioavailability. METHODS: Serum samples were collected from 60 healthy controls, 50 pregnant women, and 50 patients in intensive care units (ICUs). Total 25(OH)D was quantified by liquid chromatography with tandem mass spectrometry, and VDBP levels were determined by using an ELISA kit (R&D Systems, USA). The bioavailable 25(OH)D levels were calculated by using total 25(OH)D, VDBP, and albumin concentrations. RESULTS: In comparison with healthy controls, the total 25(OH)D concentration was significantly lower in ICU patients (median, 11.65 vs 18.25 ng/mL; P<0.00001), but no significant difference was noted between pregnant women (18.25 ng/mL) and healthy controls. The VDBP level was significantly lower in ICU patients (95.58 vs 167.18 µg/mL, P=0.0002) and higher in pregnant women (225.01 vs 167.18 µg/mL, P=0.008) compared with healthy controls. Nonetheless, the calculated bioavailable 25(OH)D levels of ICU patients and pregnant women were significantly lower than those of healthy controls (1.97 and 1.93 ng/mL vs 2.56 ng/mL; P=0.0073 and 0.0027). CONCLUSIONS: A single marker of the total 25(OH)D level is not sufficient to accurately evaluate vitamin D status, especially in pregnant women. In cases where VDBP concentrations may be altered, VDBP measurements and bioavailable 25(OH)D calculations may help to determine vitamin D status accurately.
Adult ; Aged ; Chromatography, High Pressure Liquid ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Intensive Care Units ; Male ; Middle Aged ; Pregnancy ; Pregnant Women ; Serum Albumin/analysis ; Tandem Mass Spectrometry ; Vitamin D/*blood ; Vitamin D-Binding Protein/*blood

Pharmacogenetic testing for clinical applications is steadily increasing. Correct and adequate use of pharmacogenetic tests is important to reduce unnecessary medical costs and adverse patient outcomes. This document contains recommended pharmacogenetic testing guidelines for clinical application, interpretation, and result reporting through a literature review and evidence-based expert opinions for the clinical pharmacogenetic testing covered by public medical insurance in Korea. This document aims to improve the utility of pharmacogenetic testing in routine clinical settings.
Anticoagulants/therapeutic use ; Antidepressive Agents/therapeutic use ; Antimetabolites, Antineoplastic/therapeutic use ; Antitubercular Agents/therapeutic use ; Arylamine N-Acetyltransferase/genetics ; Coronary Artery Disease/drug therapy/genetics ; Cytochrome P-450 CYP2C19/genetics ; Cytochrome P-450 CYP2C9/genetics ; Cytochrome P-450 CYP2D6/genetics ; Depressive Disorder/drug therapy/genetics ; Genotype ; Isoniazid/therapeutic use ; Laboratories, Hospital/standards ; Methyltransferases/genetics ; Pharmacogenomic Testing/*methods/standards ; Platelet Aggregation Inhibitors/therapeutic use ; Pulmonary Embolism/drug therapy/genetics ; Ticlopidine/analogs & derivatives/therapeutic use ; Tuberculosis/drug therapy/genetics ; Vitamin K Epoxide Reductases/genetics ; Warfarin/therapeutic use

Pharmacogenetics is a rapidly evolving field, and the number of pharmacogenetic tests for clinical use is steadily increasing. However, incorrect or inadequate implementation and use of pharmacogenetic testing in clinical practice may result in an increase in medical costs and adverse patient outcomes. This document contains suggested pharmacogenetic testing guidelines for clinical application, interpretation, and reporting of the results through a literature review and evidence-based expert opinions. The clinical laboratory practice guideline includes clinical pharmacogenetic testing covered by public medical insurance in Korea. Technical, ethical, and regulatory issues related to clinical pharmacogenetic testing are also addressed. This document aims to improve the utility of pharmacogenetic testing in routine clinical settings.
Expert Testimony ; Humans ; Insurance ; Korea ; Pharmacogenetics

BACKGROUND: Estimated glomerular filtration rate (eGFR) is a widely used index of kidney function. Recently, new formulas such as the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations or the Lund-Malmö equation were introduced for assessing eGFR. We compared them with the Modification of Diet in Renal Disease (MDRD) Study equation in the Korean adult population. METHODS: The study population comprised 1,482 individuals (median age 51 [42-59] yr, 48.9% males) who received annual physical check-ups during the year 2014. Serum creatinine (Cr) and cystatin C (CysC) were measured. We conducted a retrospective analysis using five GFR estimating equations (MDRD Study, revised Lund-Malmö, and Cr and/or CysC-based CKD-EPI equations). Reduced GFR was defined as eGFR <60 mL/min/1.73 m2. RESULTS: For the GFR category distribution, large discrepancies were observed depending on the equation used; category G1 (≥90 mL/min/1.73 m2) ranged from 7.4-81.8%. Compared with the MDRD Study equation, the other four equations overestimated GFR, and CysC-based equations showed a greater difference (-31.3 for CKD-EPI(CysC) and -20.5 for CKD-EPI(Cr-CysC)). CysC-based equations decreased the prevalence of reduced GFR by one third (9.4% in the MDRD Study and 2.4% in CKD-EPI(CysC)). CONCLUSIONS: Our data shows that there are remarkable differences in eGFR assessment in the Korean population depending on the equation used, especially in normal or mildly decreased categories. Further prospective studies are necessary in various clinical settings.
Adult ; Aged ; *Algorithms ; Creatinine/blood ; Cystatin C/blood ; Female ; Glomerular Filtration Rate/*physiology ; Humans ; Male ; Middle Aged ; Renal Insufficiency, Chronic/physiopathology ; Retrospective Studies

Pharmacogenetics is a rapidly evolving field and the number of pharmacogenetic tests for clinical use is steadily increasing. However, incorrect or inadequate implementation of pharmacogenetic tests in clinical practice may result in a rise in medical costs and adverse outcomes in patients. This document suggests guidelines for the clinical application, interpretation, and reporting of pharmacogenetic test results based on a literature review and the collection of evidence-based expert opinions. The clinical laboratory practice guidelines encompass the clinical pharmacogenetic tests covered by public medical insurance in Korea. Technical, ethical, and regulatory issues related to clinical pharmacogenetic tests have also been addressed. In particular, this document comprises the following pharmacogenetic tests: CYP2C9 and VKORC1 for warfarin, CYP2C19 for clopidogrel, CYP2D6 for tricyclic antidepressants, codeine, tamoxifen, and atomoxetine, NAT2 for isoniazid, UGT1A1 for irinotecan, TPMT for thiopurines, EGFR for tyrosine kinase inhibitors, ERBB2 (HER2) for erb-b2 receptor tyrosine kinase 2-targeted therapy, and KRAS for anti-epidermal growth factor receptor drugs. These guidelines would help improve the usefulness of pharmacogenetic tests in routine clinical settings.
Antidepressive Agents, Tricyclic ; Atomoxetine Hydrochloride ; Clinical Laboratory Services ; Codeine ; Cytochrome P-450 CYP2C19 ; Cytochrome P-450 CYP2C9 ; Cytochrome P-450 CYP2D6 ; Expert Testimony ; Genetic Testing ; Humans ; Insurance ; Isoniazid ; Korea ; Pharmacogenetics ; Protein-Tyrosine Kinases ; Tamoxifen ; Warfarin

BACKGROUND: High albuminuria is defined as albumin excretion of >30 mg/24 hr or an albumin-to-creatinine ratio of 30 mg/g in a random urine sample. We assessed the analytical performance of the Albumin in Urine/CSF FS kit (DiaSys Inc., UK) using a BioMajesty JCA-6010/C analyzer (JEOL Inc., Japan). METHODS: Urine albumin concentrations were measured by the Albumin in Urine/CSF FS kit using a BioMajesty JCA-BM6010/C analyzer. Imprecision, linearity, and carry-over were measured according to the Clinical Laboratory and Standards Institute documents EP10 and EP9. The assay was compared with the ALB-T TQ Gen.2 (Roche, Germany) assay on a Cobas8000 C702 (Roche, Germany), the Tina-Quant Albumin (Roche, Switzerland) assay on a Hitachi7600-210 (Hitachi, Japan), and an Abbott urine albumin assay (Abbott Laboratories, USA) on a TBA 200FR (Toshiba, Japan) using 50 random urine samples. RESULTS: Within-run and total imprecision were 0.551-1.023% and 0.551-1.214%, respectively. Linearity ranged from 6.31 to 30.60 mg/dL, and functional sensitivity was 0.5 mg/dL. Results from the Albumin in Urine/CSF FS kit showed good correlation with the ALB-T TQ Gen.2 (r=0.987) and the Tina-Quant Albumin assays (r=0.991). However, the four assays categorized 18 of 50 urine samples into different albuminuria groups. CONCLUSIONS: Albumin in Urine/CSF FS testing on a BioMajesty JCA-BM6010/C analyzer showed good linearity, functional sensitivity, precision, and correlation with the ALB-T TQ Gen.2 and Tina-Quant Albumin assays. However, because some samples were categorized into different albuminuria groups by the different assays, further studies on the standardization of albuminuria assays are needed.
Albuminuria

Chronic myelogenous leukaemia (CML) is a myeloproliferative neoplasm that is almost always characterised by the presence of t(9;22)(q34;q11.2). Approximately 5% to 10% of CML patients lack cytogenetic evidence of t(9;22)(q34;q11.2) but have the breakpoint cluster region (BCR)/ABL1 fusion, as revealed by fl uorescence in situ hybridisation (FISH) or the reverse transcription-polymerase chain reaction (RT-PCR). We present a case of Philadelphia-negative CML with a cryptic insertion of BCR at 9q34. A 22-year-old woman incidentally presented with marked leucocytosis and anaemia. Her complete blood count results were as follows: white blood cells, 238.61x10(9)/L; haemoglobin, 9.6 g/dL; platelets, 395x10(9)/L. A peripheral blood smear showed leucocytosis with neutrophilia, basophilia, left-shifted neutrophils, and circulating blasts comprising 2% of the total leucocytes. The bone marrow showed a striking increase in megakaryocytes and granulocytic precursors. The myeloid/erythroid ratio was 7.4:1, and blasts comprised up to 1.8% of all nucleated cells. Bone marrow sections revealed active megakaryopoiesis and granulopoiesis with 100% cellularity. Chromosomal analysis revealed a normal karyotype. However, interphase FISH using a dual-colour BCR/ABL1 fusion probe showed an atypical pattern consisting of one red, two green, and one fusion (1R2G1F) signal in 97.5% of the 200 analysed cells. Metaphase FISH revealed a single BCR/ABL1 fusion signal on chromosome 9. RT-PCR was positive for BCR/ABL1 (b3a2). Quantitative PCR revealed a normalised copy number of 15.32. The patient started her treatment with imatinib, reached a complete molecular response eight months afterwards, and has been coping well without any adverse events.
Blood Cell Count ; Bone Marrow ; Chromosomes, Human, Pair 9 ; Cytogenetics ; Female ; Humans ; Interphase ; Karyotype ; Leukocytes ; Megakaryocytes ; Metaphase ; Neutrophils ; Polymerase Chain Reaction ; Strikes, Employee ; Young Adult ; Imatinib Mesylate

Acute cholecystitis is a rare complication of scrub typhus. Although a few such cases have been reported in patients with scrub typhus, the clinical course is not well described. Of 12 patients, acute cholecystitis developed in 66.7% (8/12) of patients older than 60 yr. The scrub typhus group with acute cholecystitis had marginal significant longer hospital stay and higher cost than the group without cholecystitis according to propensity score matching. Scrub typhus should be kept in mind as a rare etiology of acute cholecystitis in endemic areas because the typical signs of scrub typhus such as skin rash and eschar can present after the abdominal pain.
Aged ; Aged, 80 and over ; Cholecystitis, Acute/*diagnosis/*etiology/therapy ; Diagnosis, Differential ; Female ; Humans ; Male ; Republic of Korea ; Scrub Typhus/*complications/*diagnosis/therapy ; Treatment Outcome

PURPOSE: The usability, user satisfaction, and impact of electronic nursing record (ENR) systems were investigated. METHODS: This mixed-method research was performed as a time-motion (TM) study and a survey which were carried out at six hospitals between August and November 2013. The TM study involved 108 nurses from medical, surgical, and intensive care units at each hospital, plus an additional 48 nurses who served as nonparticipating observers. In the survey, 1879 volunteer nurses completed the Impact of ENR Systems Scale, the System Usability Scale, and a global satisfaction scale. Qualitative and quantitative analyses were performed. RESULTS: The mean scores for the ENR impact, system usability, and satisfaction were 4.28 (out of 6), 58.62 (out of 100), and 74.31 (out of 100), respectively, and they differed significantly between hospitals (F=43.43, p<.001, F=53.08 and p<.001, and F=29.13 and p<.001, respectively). A workflow fragmentation assessment revealed different patterns of ENR system use among the included hospitals. Three user characteristics-educational background, practice period, and experience of using paper records-significantly affected the system usability and satisfaction scores. CONCLUSION: The system quality varied widely among the ENR systems. The generally low-to-moderate levels of system usability and user satisfaction suggest many opportunities for improvement.
Adult ; Female ; Humans ; Male ; *Nursing Records ; Nursing Staff, Hospital/*psychology ; Personal Satisfaction ; Surveys and Questionnaires ; *User-Computer Interface

We report the case of a deep sternal wound infection with sternal osteomyelitis caused by Gordonia bronchialis after open-heart surgery. The isolate was identified as a G. bronchialis by 16S rRNA and hsp65 gene sequencing, having initially been misidentified as a Rhodococcus by a commercial phenotypic identification system.
Osteomyelitis* ; Rhodococcus ; Wound Infection